[ { "id": "Q15911-1.1884.1884", "start_pos": 1884, "end_pos": 1884, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "HSALLQPSQHPEKKNKLVIK", "down_seq": "KEKESQRERDSAEGGEGNTG", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "5", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72797032", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E1884", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15911-1.1875.1875", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.1904.1904", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.1904.1904", "start_pos": 1904, "end_pos": 1904, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs145361431", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145361431", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs145361431", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145361431", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs145361431", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145361431", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs145361431", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145361431", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "EKEKESQRERDSAEGGEGNT", "down_seq": "PKETLPDALKAKEKKELAPG", "snv": [ { "evidence": [ { "id": "rs145361431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145361431" }, { "id": "rs145361431", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145361431" }, { "id": "rs145361431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145361431" }, { "id": "rs145361431", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145361431" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTG->NTC).", "chr_id": "16", "chr_pos": "72796972", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1904", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs145361431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145361431" }, { "id": "rs145361431", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145361431" }, { "id": "rs145361431", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145361431" }, { "id": "rs145361431", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145361431" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTG->NTS).", "chr_id": "16", "chr_pos": "72796972", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1904", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.1884.1884", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.1906.1906", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.1906.1906", "start_pos": 1906, "end_pos": 1906, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EKESQRERDSAEGGEGNTGP", "down_seq": "ETLPDALKAKEKKELAPGGG", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KET->NET).", "chr_id": "16", "chr_pos": "72796964", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1906", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15911-1.1904.1904", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.1935.1935", "start_pos": 1935, "end_pos": 1935, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AKEKKELAPGGGSEPSMLPP", "down_seq": "IASDARGNATKALLENFGFE", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72796878", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1935", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q15911-1.1944.1944", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.1944.1944", "start_pos": 1944, "end_pos": 1944, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GGGSEPSMLPPRIASDARGN", "down_seq": "TKALLENFGFELVIQYNENK", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72796852", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1944", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15911-1.1935.1935", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15911-1.1963.1963", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.1963.1963", "start_pos": 1963, "end_pos": 1963, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2035923484", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2035923484", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2035923484", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2035923484", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NATKALLENFGFELVIQYNE", "down_seq": "KQKVQKKNGKTDQGENLEKL", "snv": [ { "evidence": [ { "id": "rs2035923484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2035923484" }, { "id": "rs2035923484", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2035923484" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEN->NES).", "chr_id": "16", "chr_pos": "72796794", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1963", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.1944.1944", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.1965.1965", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.1965.1965", "start_pos": 1965, "end_pos": 1965, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "TKALLENFGFELVIQYNENK", "down_seq": "KVQKKNGKTDQGENLEKLEC", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72796789", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q1965", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15911-1.1963.1963", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.1986.1986", "start_pos": 1986, "end_pos": 1986, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2143438460", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143438460", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2143438460", "url": "https://www.ensembl.org/id/rs2143438460", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KVQKKNGKTDQGENLEKLEC", "down_seq": "SCGKLFSNILILKSHQEHVH", "snv": [ { "evidence": [ { "id": "rs2143438460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143438460" }, { "id": "rs2143438460", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143438460" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSC->NSC).", "chr_id": "16", "chr_pos": "72796726", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1986", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2052.2052", "start_pos": 2052, "end_pos": 2052, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LRPQTPEPPPPPPPPPPPPL", "down_seq": "AAPPQPASTPAIPASAPPIT", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72796527", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2052", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q15911-1.2057.2057", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.2061.2061", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.2068.2068", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2057.2057", "start_pos": 2057, "end_pos": 2057, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "PEPPPPPPPPPPPPLPAAPP", "down_seq": "PASTPAIPASAPPITSPTIA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72796513", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q2057", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q15911-1.2052.2052", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.2061.2061", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.2068.2068", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2068.2068", "start_pos": 2068, "end_pos": 2068, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PPPLPAAPPQPASTPAIPAS", "down_seq": "PPITSPTIAPAQPSVPLTQL", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72796480", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2068", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15911-1.2052.2052", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15911-1.2057.2057", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.2061.2061", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2098.2098", "start_pos": 2098, "end_pos": 2098, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PAQPSVPLTQLSMPMELPIF", "down_seq": "PLMMQTMPLQTLPAQLPPQL", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72796389", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2098", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2138.2138", "start_pos": 2138, "end_pos": 2138, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1203799745", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203799745", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1203799745", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1203799745", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs750269306", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750269306", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750269306", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750269306", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750269306", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750269306", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LGPVEPLPADLAQLYQHQLN", "down_seq": "TLLQQQNKRPRTRITDDQLR", "snv": [ { "evidence": [ { "id": "rs1203799745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203799745" }, { "id": "rs1203799745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1203799745" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NQT).", "chr_id": "16", "chr_pos": "72796269", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750269306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750269306" }, { "id": "rs750269306", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750269306" }, { "id": "rs750269306", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750269306" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NTT).", "chr_id": "16", "chr_pos": "72796270", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2138", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q15911-1.2148.2148", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.2149.2149", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2148.2148", "start_pos": 2148, "end_pos": 2148, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LAQLYQHQLNPTLLQQQNKR", "down_seq": "RTRITDDQLRVLRQYFDINN", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72796239", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2148", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q15911-1.2138.2138", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15911-1.2149.2149", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2149.2149", "start_pos": 2149, "end_pos": 2149, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AQLYQHQLNPTLLQQQNKRP", "down_seq": "TRITDDQLRVLRQYFDINNS", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72796237", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2149", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "16", "chr_pos": "72796236", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2149", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15911-1.2138.2138", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15911-1.2148.2148", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.2169.2169", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2170.2170", "start_pos": 2170, "end_pos": 2170, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2143427533", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143427533", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2143427533", "url": "https://www.ensembl.org/id/rs2143427533", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TRITDDQLRVLRQYFDINNS", "down_seq": "SEEQIKEMADKSGLPQKVIK", "snv": [ { "evidence": [ { "id": "rs2143427533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143427533" }, { "id": "rs2143427533", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143427533" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "16", "chr_pos": "72796174", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2170", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q15911-1.2169.2169", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15911-1.2180.2180", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2180.2180", "start_pos": 2180, "end_pos": 2180, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767411722", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767411722", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767411722", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767411722", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767411722", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767411722", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LRQYFDINNSPSEEQIKEMA", "down_seq": "KSGLPQKVIKHWFRNTLFKE", "snv": [ { "evidence": [ { "id": "rs767411722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767411722" }, { "id": "rs767411722", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767411722" }, { "id": "rs767411722", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767411722" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "16", "chr_pos": "72796144", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2180", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15911-1.2169.2169", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15911-1.2170.2170", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2242.2242", "start_pos": 2242, "end_pos": 2242, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LKIDSRPPSPEPPKQEYWGS", "down_seq": "RSSRTRFTDYQLRVLQDFFD", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "16", "chr_pos": "72795956", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K2242", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q15911-1.2262.2262", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2262.2262", "start_pos": 2262, "end_pos": 2262, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KRSSRTRFTDYQLRVLQDFF", "down_seq": "ANAYPKDDEFEQLSNLLNLP", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72795898", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2262", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.2242.2242", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.2274.2274", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2274.2274", "start_pos": 2274, "end_pos": 2274, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "LRVLQDFFDANAYPKDDEFE", "down_seq": "LSNLLNLPTRVIVVWFQNAR", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72795862", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q2274", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q15911-1.2262.2262", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.2294.2294", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2294.2294", "start_pos": 2294, "end_pos": 2294, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QLSNLLNLPTRVIVVWFQNA", "down_seq": "QKARKNYENQGEGKDGERRE", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72795801", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2294", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.2274.2274", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2318.2318", "start_pos": 2318, "end_pos": 2318, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RKNYENQGEGKDGERRELTN", "down_seq": "RYIRTSNLNYQCKKCSLVFQ", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72795730", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2318", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q15911-1.2322.2322", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15911-1.2331.2331", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2322.2322", "start_pos": 2322, "end_pos": 2322, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ENQGEGKDGERRELTNDRYI", "down_seq": "TSNLNYQCKKCSLVFQRIFD", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72795718", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2322", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q15911-1.2318.2318", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.2331.2331", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DQAFPNTSALAGLSPVLHSF", "down_seq": "VFDVRHKSNKDYLNSDGSAK", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72959452", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R232", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q15911-1.218.218", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q15911-1.219.219", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15911-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.249.249", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2331.2331", "start_pos": 2331, "end_pos": 2331, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1300410996", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300410996", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1300410996", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1300410996#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1300410996", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300410996", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ERRELTNDRYIRTSNLNYQC", "down_seq": "KCSLVFQRIFDLIKHQKKLC", "snv": [ { "evidence": [ { "id": "rs1300410996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300410996" }, { "id": "rs1300410996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1300410996#frequency_tab" }, { "id": "rs1300410996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300410996" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KKC->NKC).", "chr_id": "16", "chr_pos": "72795689", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2331", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15911-1.2318.2318", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15911-1.2322.2322", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.2349.2349", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.237.237", "start_pos": 237, "end_pos": 237, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NTSALAGLSPVLHSFRVFDV", "down_seq": "HKSNKDYLNSDGSAKSSCVS", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72959437", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R237", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.218.218", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q15911-1.219.219", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15911-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.253.253", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2405.2405", "start_pos": 2405, "end_pos": 2405, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PMPSQAYSAPAPSANNTASS", "down_seq": "FLQLTAEAEELATFNSKTEA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72795469", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2405", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2427.2427", "start_pos": 2427, "end_pos": 2427, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LQLTAEAEELATFNSKTEAG", "down_seq": "EKPKLAEAPSAQPNQTQEKQ", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72795403", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2427", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q15911-1.2437.2437", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2464.2464", "start_pos": 2464, "end_pos": 2464, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2143414365", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143414365", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2143414365", "url": "https://www.ensembl.org/id/rs2143414365", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QEKQGQPKPELQQQEQPEQK", "down_seq": "NTPQQKLPQLVSLPSLPQPP", "snv": [ { "evidence": [ { "id": "rs2143414365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143414365" }, { "id": "rs2143414365", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143414365" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TNT->NNT).", "chr_id": "16", "chr_pos": "72795291", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2464", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2487.2487", "start_pos": 2487, "end_pos": 2487, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PQQKLPQLVSLPSLPQPPPQ", "down_seq": "PPPQCPLPQSSPSPSQLSHL", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72795222", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2487", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1961446285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1961446285", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1961446285", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1961446285", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1961446285", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1961446285", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LHSFRVFDVRHKSNKDYLNS", "down_seq": "GSAKSSCVSKDVPNNVDLSK", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs1961446285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1961446285" }, { "id": "rs1961446285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1961446285" }, { "id": "rs1961446285", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1961446285" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "16", "chr_pos": "72959404", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D248", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15911-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15911-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15911-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15911-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15911-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15911-1.267.267", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.249.249", "start_pos": 249, "end_pos": 249, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "HSFRVFDVRHKSNKDYLNSD", "down_seq": "SAKSSCVSKDVPNNVDLSKF", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72959401", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G249", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15911-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15911-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15911-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.267.267", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2524.2524", "start_pos": 2524, "end_pos": 2524, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1403751620", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403751620", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1403751620", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1403751620#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1403751620", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403751620", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LSHLPLKPLHTSTPQQLANL", "down_seq": "PQLIPYQCDQCKLAFPSFEH", "snv": [ { "evidence": [ { "id": "rs1403751620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403751620" }, { "id": "rs1403751620", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1403751620#frequency_tab" }, { "id": "rs1403751620", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403751620" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "16", "chr_pos": "72795112", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2524", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.253.253", "start_pos": 253, "end_pos": 253, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VFDVRHKSNKDYLNSDGSAK", "down_seq": "SCVSKDVPNNVDLSKFDGFV", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SSC->NSC).", "chr_id": "16", "chr_pos": "72959388", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S253", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15911-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15911-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15911-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.267.267", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.270.270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.258.258", "start_pos": 258, "end_pos": 258, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HKSNKDYLNSDGSAKSSCVS", "down_seq": "DVPNNVDLSKFDGFVLYGKR", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "K", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "16", "chr_pos": "72959373", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K258", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q15911-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15911-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15911-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.267.267", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.270.270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2628.2628", "start_pos": 2628, "end_pos": 2628, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TSTMNTLKRKLEEKASASPG", "down_seq": "NDSGTGGEEPQRDKRLRTTI", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72794800", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2628", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15911-1.2615.2617", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15911-1.2623.2623", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.2625.2625", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15911-1.2643.2643", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15911-1.2647.2647", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2643.2643", "start_pos": 2643, "end_pos": 2643, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SASPGENDSGTGGEEPQRDK", "down_seq": "LRTTITPEQLEILYQKYLLD", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72794754", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2643", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.2623.2623", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q15911-1.2625.2625", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q15911-1.2628.2628", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.2647.2647", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15911-1.2656.2656", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2647.2647", "start_pos": 2647, "end_pos": 2647, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GENDSGTGGEEPQRDKRLRT", "down_seq": "ITPEQLEILYQKYLLDSNPT", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TIT->NIT).", "chr_id": "16", "chr_pos": "72794742", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T2647", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.2628.2628", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.2643.2643", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.2656.2656", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15911-1.2666.2666", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2656.2656", "start_pos": 2656, "end_pos": 2656, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "EEPQRDKRLRTTITPEQLEI", "down_seq": "YQKYLLDSNPTRKMLDHIAH", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72794716", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L2656", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15911-1.2643.2643", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15911-1.2647.2647", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15911-1.2666.2666", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.2668.2668", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2666.2666", "start_pos": 2666, "end_pos": 2666, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs763156400", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763156400", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763156400", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763156400", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763156400", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763156400#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763156400", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763156400", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs763156400", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763156400", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TTITPEQLEILYQKYLLDSN", "down_seq": "TRKMLDHIAHEVGLKKRVVQ", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs763156400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763156400" }, { "id": "rs763156400", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763156400" }, { "id": "rs763156400", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763156400#frequency_tab" }, { "id": "rs763156400", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763156400" }, { "id": "rs763156400", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763156400" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "16", "chr_pos": "72794685", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2666", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.2647.2647", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15911-1.2656.2656", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.2668.2668", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.2677.2677", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2668.2668", "start_pos": 2668, "end_pos": 2668, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ITPEQLEILYQKYLLDSNPT", "down_seq": "KMLDHIAHEVGLKKRVVQVW", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72794680", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2668", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q15911-1.2656.2656", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.2666.2666", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.2677.2677", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2677.2677", "start_pos": 2677, "end_pos": 2677, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YQKYLLDSNPTRKMLDHIAH", "down_seq": "VGLKKRVVQVWFQNTRARER", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72794653", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E2677", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15911-1.2666.2666", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15911-1.2668.2668", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SAKSSCVSKDVPNNVDLSKF", "down_seq": "GFVLYGKRKPILMCFLCKLS", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "16", "chr_pos": "72959338", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D270", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15911-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15911-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.267.267", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2733.2733", "start_pos": 2733, "end_pos": 2733, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CPFCRALFKAKTALEAHIRS", "down_seq": "HWHEAKRAGYNLTLSAMLLD", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72794484", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2733", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q15911-1.2749.2749", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2749.2749", "start_pos": 2749, "end_pos": 2749, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "HIRSRHWHEAKRAGYNLTLS", "down_seq": "MLLDCDGGLQMKGDIFDGTS", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72794436", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2749", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15911-1.2733.2733", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.2763.2763", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.2766.2766", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2763.2763", "start_pos": 2763, "end_pos": 2763, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YNLTLSAMLLDCDGGLQMKG", "down_seq": "IFDGTSFSHLPPSSSDGQGV", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72794395", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2763", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q15911-1.2749.2749", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.2766.2766", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2766.2766", "start_pos": 2766, "end_pos": 2766, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2035825069", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2035825069", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2035825069", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2035825069#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TLSAMLLDCDGGLQMKGDIF", "down_seq": "GTSFSHLPPSSSDGQGVPLS", "snv": [ { "evidence": [ { "id": "rs2035825069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2035825069" }, { "id": "rs2035825069", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2035825069#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "16", "chr_pos": "72794386", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2766", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15911-1.2749.2749", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.2763.2763", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.2786.2786", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2789.2789", "start_pos": 2789, "end_pos": 2789, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2143397824", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143397824", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2143397824", "url": "https://www.ensembl.org/id/rs2143397824", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SFSHLPPSSSDGQGVPLSPV", "down_seq": "KTMELSPRTLLSPSSIKVEG", "snv": [ { "evidence": [ { "id": "rs2143397824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143397824" }, { "id": "rs2143397824", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143397824" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SKT->NKT).", "chr_id": "16", "chr_pos": "72794316", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2789", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15911-1.2786.2786", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15911-1.2795.2795", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.2806.2806", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2824.2824", "start_pos": 2824, "end_pos": 2824, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1410594452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410594452", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1410594452", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410594452#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1410594452", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410594452", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SIKVEGIEDFESPSMSSVNL", "down_seq": "FDQTKLDNDDCSSVNTAITD", "snv": [ { "evidence": [ { "id": "rs1410594452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410594452" }, { "id": "rs1410594452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410594452#frequency_tab" }, { "id": "rs1410594452", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410594452" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "16", "chr_pos": "72794211", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2824", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.2806.2806", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.2833.2833", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.2841.2841", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2833.2833", "start_pos": 2833, "end_pos": 2833, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2143395885", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143395885", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2143395885", "url": "https://www.ensembl.org/id/rs2143395885", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2143395885", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2143395885", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FESPSMSSVNLNFDQTKLDN", "down_seq": "DCSSVNTAITDTTTGDEGNA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs2143395885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143395885" }, { "id": "rs2143395885", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143395885" }, { "id": "rs2143395885", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2143395885" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DDC->NDC).", "chr_id": "16", "chr_pos": "72794185", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D2833", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15911-1.2824.2824", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15911-1.2841.2841", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.2845.2845", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.2853.2853", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2841.2841", "start_pos": 2841, "end_pos": 2841, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2143395459", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143395459", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2143395459", "url": "https://www.ensembl.org/id/rs2143395459", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VNLNFDQTKLDNDDCSSVNT", "down_seq": "ITDTTTGDEGNADNDSATGI", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTS).", "chr_id": "16", "chr_pos": "72794161", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A2841", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2143395459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143395459" }, { "id": "rs2143395459", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143395459" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "16", "chr_pos": "72794161", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2841", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15911-1.2824.2824", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15911-1.2833.2833", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.2845.2845", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.2853.2853", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.2857.2857", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2845.2845", "start_pos": 2845, "end_pos": 2845, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs920043287", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs920043287", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs920043287", "url": "http://gnomad.broadinstitute.org/awesome?query=rs920043287", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FDQTKLDNDDCSSVNTAITD", "down_seq": "TTGDEGNADNDSATGIATET", "snv": [ { "evidence": [ { "id": "rs920043287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs920043287" }, { "id": "rs920043287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs920043287" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "16", "chr_pos": "72794148", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2845", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q15911-1.2833.2833", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.2841.2841", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15911-1.2853.2853", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.2857.2857", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2853.2853", "start_pos": 2853, "end_pos": 2853, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DDCSSVNTAITDTTTGDEGN", "down_seq": "DNDSATGIATETKSSSAPNE", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "16", "chr_pos": "72794125", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2853", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.2833.2833", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15911-1.2841.2841", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15911-1.2845.2845", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.2857.2857", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2857.2857", "start_pos": 2857, "end_pos": 2857, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1372314790", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372314790", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1372314790", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372314790", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVNTAITDTTTGDEGNADND", "down_seq": "ATGIATETKSSSAPNEGLTK", "snv": [ { "evidence": [ { "id": "rs1372314790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372314790" }, { "id": "rs1372314790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372314790" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAT->NAT).", "chr_id": "16", "chr_pos": "72794112", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2857", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15911-1.2841.2841", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15911-1.2845.2845", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.2853.2853", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2889.2889", "start_pos": 2889, "end_pos": 2889, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SAPNEGLTKAAMMAMSEYED", "down_seq": "LSSGLVSPAPSFYSKEYDNE", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72794016", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2889", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q15911-1.2892.2892", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.2896.2896", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2910.2910", "start_pos": 2910, "end_pos": 2910, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs777884235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777884235", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777884235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777884235", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777884235", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777884235", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs777884235", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777884235", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LSSGLVSPAPSFYSKEYDNE", "down_seq": "TVDYSETSSLADPCSPSPGA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs777884235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777884235" }, { "id": "rs777884235", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777884235" }, { "id": "rs777884235", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777884235" }, { "id": "rs777884235", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777884235" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NEG->NES).", "chr_id": "16", "chr_pos": "72793954", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G2910", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.2892.2892", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15911-1.2896.2896", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.2913.2913", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2913.2913", "start_pos": 2913, "end_pos": 2913, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748400937", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748400937", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748400937", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748400937", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748400937", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748400937", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GLVSPAPSFYSKEYDNEGTV", "down_seq": "YSETSSLADPCSPSPGASGS", "snv": [ { "evidence": [ { "id": "rs748400937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748400937" }, { "id": "rs748400937", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748400937" }, { "id": "rs748400937", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748400937" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "16", "chr_pos": "72793945", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2913", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15911-1.2896.2896", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.2910.2910", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.2931.2931", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2931.2931", "start_pos": 2931, "end_pos": 2931, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TVDYSETSSLADPCSPSPGA", "down_seq": "GSAGKSGDSGDRPGQKRFRT", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "16", "chr_pos": "72793890", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S2931", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.2913.2913", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15911-1.2950.2950", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2950.2950", "start_pos": 2950, "end_pos": 2950, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ASGSAGKSGDSGDRPGQKRF", "down_seq": "TQMTNLQLKVLKSCFNDYRT", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (8).", "chr_id": "16", "chr_pos": "72793833", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2950", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.2931.2931", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.2962.2962", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.2968.2968", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2962.2962", "start_pos": 2962, "end_pos": 2962, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2143387878", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143387878", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2143387878", "url": "https://www.ensembl.org/id/rs2143387878", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DRPGQKRFRTQMTNLQLKVL", "down_seq": "SCFNDYRTPTMLECEVLGND", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs2143387878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143387878" }, { "id": "rs2143387878", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143387878" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KSC->NSC).", "chr_id": "16", "chr_pos": "72793796", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K2962", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q15911-1.2950.2950", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15911-1.2968.2968", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2968.2968", "start_pos": 2968, "end_pos": 2968, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1475232597", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475232597", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1475232597", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1475232597#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1475232597", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475232597", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RFRTQMTNLQLKVLKSCFND", "down_seq": "RTPTMLECEVLGNDIGLPKR", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs1475232597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475232597" }, { "id": "rs1475232597", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1475232597#frequency_tab" }, { "id": "rs1475232597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475232597" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDY->NDC).", "chr_id": "16", "chr_pos": "72793779", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y2968", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.2950.2950", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15911-1.2962.2962", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15911-1.2983.2983", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2983.2983", "start_pos": 2983, "end_pos": 2983, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs781113330", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781113330", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781113330", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781113330", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781113330", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781113330", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SCFNDYRTPTMLECEVLGND", "down_seq": "GLPKRVVQVWFQNARAKEKK", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDI->NDS).", "chr_id": "16", "chr_pos": "72793734", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I2983", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs781113330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781113330" }, { "id": "rs781113330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781113330" }, { "id": "rs781113330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781113330" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "16", "chr_pos": "72793734", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2983", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15911-1.2968.2968", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.2990.2990", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15911-1.2998.2998", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.3001.3001", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15911-1.3002.3002", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2990.2990", "start_pos": 2990, "end_pos": 2990, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TPTMLECEVLGNDIGLPKRV", "down_seq": "QVWFQNARAKEKKSKLSMAK", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72793714", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V2990", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q15911-1.2983.2983", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15911-1.2998.2998", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.3001.3001", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.3002.3002", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15911-1.3005.3005", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2998.2998", "start_pos": 2998, "end_pos": 2998, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VLGNDIGLPKRVVQVWFQNA", "down_seq": "AKEKKSKLSMAKHFGINQTS", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72793690", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R2998", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15911-1.2983.2983", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15911-1.2990.2990", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.3001.3001", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.3002.3002", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.3005.3005", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3001.3001", "start_pos": 3001, "end_pos": 3001, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NDIGLPKRVVQVWFQNARAK", "down_seq": "KKSKLSMAKHFGINQTSYEG", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "8", "frequency": "0.5", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72793681", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E3001", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.2983.2983", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15911-1.2990.2990", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.2998.2998", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15911-1.3002.3002", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.3005.3005", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3002.3002", "start_pos": 3002, "end_pos": 3002, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2143384206", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143384206", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2143384206", "url": "https://www.ensembl.org/id/rs2143384206", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2143384206", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2143384206", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DIGLPKRVVQVWFQNARAKE", "down_seq": "KSKLSMAKHFGINQTSYEGP", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs2143384206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143384206" }, { "id": "rs2143384206", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143384206" }, { "id": "rs2143384206", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2143384206" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "16", "chr_pos": "72793676", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K3002", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.2983.2983", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15911-1.2990.2990", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.2998.2998", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15911-1.3001.3001", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.3005.3005", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3005.3005", "start_pos": 3005, "end_pos": 3005, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1402737204", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402737204", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1402737204", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402737204#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1402737204", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402737204", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LPKRVVQVWFQNARAKEKKS", "down_seq": "LSMAKHFGINQTSYEGPKTE", "snv": [ { "evidence": [ { "id": "rs1402737204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402737204" }, { "id": "rs1402737204", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402737204#frequency_tab" }, { "id": "rs1402737204", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402737204" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "16", "chr_pos": "72793667", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3005", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15911-1.2990.2990", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.2998.2998", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.3001.3001", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.3002.3002", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3032.3032", "start_pos": 3032, "end_pos": 3032, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs140157753", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140157753", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs140157753", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140157753", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs140157753", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140157753#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs140157753", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140157753", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FGINQTSYEGPKTECTLCGI", "down_seq": "YSARLSVRDHIFSQQHISKV", "snv": [ { "evidence": [ { "id": "rs140157753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140157753" }, { "id": "rs140157753", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140157753" }, { "id": "rs140157753", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140157753#frequency_tab" }, { "id": "rs140157753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140157753" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "16", "chr_pos": "72793586", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3032", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q15911-1.3036.3036", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3036.3036", "start_pos": 3036, "end_pos": 3036, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QTSYEGPKTECTLCGIKYSA", "down_seq": "LSVRDHIFSQQHISKVKDTI", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72793575", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R3036", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q15911-1.3032.3032", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.3056.3056", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3056.3056", "start_pos": 3056, "end_pos": 3056, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RLSVRDHIFSQQHISKVKDT", "down_seq": "GSQLDKEKEYFDPATVRQLM", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72793515", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I3056", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.3036.3036", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3102.3102", "start_pos": 3102, "end_pos": 3102, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2035781034", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2035781034", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2035781034", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2035781034#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DRIKKANEVLGLAAQQQGMF", "down_seq": "NTPLQALNLPTAYPALQGIP", "snv": [ { "evidence": [ { "id": "rs2035781034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2035781034" }, { "id": "rs2035781034", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2035781034#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DNT->NNT).", "chr_id": "16", "chr_pos": "72793378", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D3102", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q15911-1.3105.3105", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15911-1.3107.3107", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15911-1.3117.3117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3105.3105", "start_pos": 3105, "end_pos": 3105, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KKANEVLGLAAQQQGMFDNT", "down_seq": "LQALNLPTAYPALQGIPPVL", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "16", "chr_pos": "72793369", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3105", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15911-1.3102.3102", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.3107.3107", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.3117.3117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3107.3107", "start_pos": 3107, "end_pos": 3107, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "ANEVLGLAAQQQGMFDNTPL", "down_seq": "ALNLPTAYPALQGIPPVLLP", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72793363", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q3107", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q15911-1.3102.3102", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.3105.3105", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15911-1.3117.3117", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.3127.3127", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3117.3117", "start_pos": 3117, "end_pos": 3117, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QQGMFDNTPLQALNLPTAYP", "down_seq": "LQGIPPVLLPGLNSPSLPGF", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72793332", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3117", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15911-1.3102.3102", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15911-1.3105.3105", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15911-1.3107.3107", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15911-1.3127.3127", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.3133.3133", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3127.3127", "start_pos": 3127, "end_pos": 3127, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QALNLPTAYPALQGIPPVLL", "down_seq": "GLNSPSLPGFTPSNTALTSP", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72793302", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3127", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.3107.3107", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15911-1.3117.3117", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15911-1.3133.3133", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3133.3133", "start_pos": 3133, "end_pos": 3133, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TAYPALQGIPPVLLPGLNSP", "down_seq": "LPGFTPSNTALTSPKPNLMG", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72793284", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3133", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15911-1.3117.3117", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15911-1.3127.3127", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3156.3156", "start_pos": 3156, "end_pos": 3156, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GFTPSNTALTSPKPNLMGLP", "down_seq": "TTVPSPGLPTSGLPNKPSSA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "16", "chr_pos": "72788809", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S3156", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.316.316", "start_pos": 316, "end_pos": 316, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SFVTHAVHDHRMTLSEDERK", "down_seq": "LSNKNISAIIQGIGKDKEPL", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72959200", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I316", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q15911-1.321.321", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3177.3177", "start_pos": 3177, "end_pos": 3177, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TTVPSPGLPTSGLPNKPSSA", "down_seq": "LSSPTPAQATMAMGPQQPPQ", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72788746", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S3177", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q15911-1.3182.3182", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144449847", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144449847", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144449847", "url": "https://www.ensembl.org/id/rs2144449847", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AVHDHRMTLSEDERKILSNK", "down_seq": "ISAIIQGIGKDKEPLVSFLE", "snv": [ { "evidence": [ { "id": "rs2144449847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144449847" }, { "id": "rs2144449847", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144449847" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKN->NKS).", "chr_id": "16", "chr_pos": "72959184", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N321", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q15911-1.316.316", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3271.3271", "start_pos": 3271, "end_pos": 3271, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GEPLPVPKKEKGEAPTATAA", "down_seq": "ISAPLPTMEYAVDPAQLQAL", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72788464", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T3271", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15911-1.3258.3258", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15911-1.3266.3266", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.3275.3275", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3275.3275", "start_pos": 3275, "end_pos": 3275, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PVPKKEKGEAPTATAATISA", "down_seq": "LPTMEYAVDPAQLQALQAAL", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72788452", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P3275", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15911-1.3258.3258", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15911-1.3266.3266", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.3271.3271", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3326.3326", "start_pos": 3326, "end_pos": 3326, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QFLPYFVPGFSPYYAPQIPG", "down_seq": "LQSGYLQPMYGMEGLFPYSP", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72788300", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3326", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q15911-1.3333.3333", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3333.3333", "start_pos": 3333, "end_pos": 3333, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "PGFSPYYAPQIPGALQSGYL", "down_seq": "PMYGMEGLFPYSPALSQALM", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72788279", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q3333", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q15911-1.3326.3326", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3416.3416", "start_pos": 3416, "end_pos": 3416, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1197736437", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197736437", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1197736437", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1197736437#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PKASQTPVPPGAPSPDKDPA", "down_seq": "ESPKPEEQKNTPREVSPLLP", "snv": [ { "evidence": [ { "id": "rs1197736437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197736437" }, { "id": "rs1197736437", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1197736437#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "16", "chr_pos": "72788028", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3416", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q15911-1.3409.3409", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.3418.3418", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.3425.3425", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.3428.3428", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.3432.3432", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3425.3425", "start_pos": 3425, "end_pos": 3425, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1279076695", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1279076695", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1279076695", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1279076695#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1279076695", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1279076695", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PGAPSPDKDPAKESPKPEEQ", "down_seq": "NTPREVSPLLPKLPEEPEAE", "snv": [ { "evidence": [ { "id": "rs1279076695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1279076695" }, { "id": "rs1279076695", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1279076695#frequency_tab" }, { "id": "rs1279076695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1279076695" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KNT->NNT).", "chr_id": "16", "chr_pos": "72788001", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K3425", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15911-1.3409.3409", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15911-1.3416.3416", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.3418.3418", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.3428.3428", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.3432.3432", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3428.3428", "start_pos": 3428, "end_pos": 3428, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1434677227", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434677227", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1434677227", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434677227#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1434677227", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434677227", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PSPDKDPAKESPKPEEQKNT", "down_seq": "REVSPLLPKLPEEPEAESKS", "snv": [ { "evidence": [ { "id": "rs1434677227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434677227" }, { "id": "rs1434677227", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434677227#frequency_tab" }, { "id": "rs1434677227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434677227" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "16", "chr_pos": "72787994", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P3428", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.3409.3409", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15911-1.3416.3416", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15911-1.3418.3418", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.3425.3425", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.3432.3432", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.3446.3446", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3446.3446", "start_pos": 3446, "end_pos": 3446, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1313741097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1313741097", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1313741097", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1313741097#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1313741097", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1313741097", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NTPREVSPLLPKLPEEPEAE", "down_seq": "KSADSLYDPFIVPKVQYKLV", "snv": [ { "evidence": [ { "id": "rs1313741097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1313741097" }, { "id": "rs1313741097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1313741097#frequency_tab" }, { "id": "rs1313741097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1313741097" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "16", "chr_pos": "72787939", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3446", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.3428.3428", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15911-1.3432.3432", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1350652479", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350652479", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1350652479", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350652479", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IQGIGKDKEPLVSFLEPKNK", "down_seq": "FQHPLVSTANLIGPGHSFYG", "snv": [ { "evidence": [ { "id": "rs1350652479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350652479" }, { "id": "rs1350652479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350652479" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKN->NKS).", "chr_id": "16", "chr_pos": "72959109", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N346", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q15911-1.353.353", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15911-1.354.354", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15911-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.363.363", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3472.3472", "start_pos": 3472, "end_pos": 3472, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LYDPFIVPKVQYKLVCRKCQ", "down_seq": "GFSDEEAARSHLKSLCFFGQ", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72787861", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A3472", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q15911-1.3475.3475", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3475.3475", "start_pos": 3475, "end_pos": 3475, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PFIVPKVQYKLVCRKCQAGF", "down_seq": "DEEAARSHLKSLCFFGQSVV", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72787853", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S3475", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15911-1.3472.3472", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3513.3513", "start_pos": 3513, "end_pos": 3513, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVVNLQEMVLHVPTGGGGGG", "down_seq": "GGGGGGGGGGGGGGSYHCLA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72787739", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S3513", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q15911-1.3521.3521", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3521.3521", "start_pos": 3521, "end_pos": 3521, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VLHVPTGGGGGGSGGGGGGG", "down_seq": "GGGGGGSYHCLACESALCGE", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72787715", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G3521", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q15911-1.3513.3513", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.3535.3535", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.3537.3537", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3535.3535", "start_pos": 3535, "end_pos": 3535, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GGGGGGGGGGGGGSYHCLAC", "down_seq": "SALCGEEALSQHLESALHKH", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72787673", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E3535", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q15911-1.3521.3521", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.3537.3537", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3537.3537", "start_pos": 3537, "end_pos": 3537, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GGGGGGGGGGGSYHCLACES", "down_seq": "LCGEEALSQHLESALHKHRT", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72787667", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3537", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15911-1.3521.3521", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.3535.3535", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752145531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752145531", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752145531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752145531", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752145531", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752145531", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SFLEPKNKNFQHPLVSTANL", "down_seq": "GPGHSFYGKFSGIRMEGEEA", "snv": [ { "evidence": [ { "id": "rs752145531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752145531" }, { "id": "rs752145531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752145531" }, { "id": "rs752145531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752145531" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "16", "chr_pos": "72959073", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I358", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q15911-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15911-1.353.353", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.354.354", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15911-1.363.363", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.372.372", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3604.3604", "start_pos": 3604, "end_pos": 3604, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ASTSQSAAHSNDSPPPPSAA", "down_seq": "PSSASPHASRKSWPQVVSRA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72787466", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A3604", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15911-1.3593.3593", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.3611.3611", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3611.3611", "start_pos": 3611, "end_pos": 3611, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs200992486", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200992486", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200992486", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200992486", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200992486", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200992486", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200992486", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200992486#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200992486", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200992486", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs200992486", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200992486", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "AHSNDSPPPPSAAAPSSASP", "down_seq": "ASRKSWPQVVSRASAAKPPS", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs200992486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200992486" }, { "id": "rs200992486", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200992486" }, { "id": "rs200992486", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200992486" }, { "id": "rs200992486", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200992486#frequency_tab" }, { "id": "rs200992486", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200992486" }, { "id": "rs200992486", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200992486" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HAS->NAS).", "chr_id": "16", "chr_pos": "72787445", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H3611", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.3593.3593", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.3604.3604", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.361.361", "start_pos": 361, "end_pos": 361, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "EPKNKNFQHPLVSTANLIGP", "down_seq": "HSFYGKFSGIRMEGEEALPA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72959065", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G361", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15911-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15911-1.353.353", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.354.354", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.363.363", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.379.379", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3644.3644", "start_pos": 3644, "end_pos": 3644, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs554222314", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554222314", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs554222314", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554222314", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs554222314", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554222314", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs554222314", "url": "https://www.ncbi.nlm.nih.gov/snp/rs554222314#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs554222314", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554222314", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ASAAKPPSFPPLSSSSTVTS", "down_seq": "SCSTSGVQPSMPTDDYSEES", "snv": [ { "evidence": [ { "id": "rs554222314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554222314" }, { "id": "rs554222314", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554222314" }, { "id": "rs554222314", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554222314" }, { "id": "rs554222314", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs554222314#frequency_tab" }, { "id": "rs554222314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554222314" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSC->NSC).", "chr_id": "16", "chr_pos": "72787345", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3644", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q15911-1.3659.3659", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.3659.3659", "start_pos": 3659, "end_pos": 3659, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1374726770", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374726770", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1374726770", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374726770#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1374726770", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374726770", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "STVTSSSCSTSGVQPSMPTD", "down_seq": "YSEESDTDLSQKSDGPASPV", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs1374726770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374726770" }, { "id": "rs1374726770", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374726770#frequency_tab" }, { "id": "rs1374726770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374726770" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "16", "chr_pos": "72787301", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D3659", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15911-1.3644.3644", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15911-1.3667.3667", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.3677.3677", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.372.372", "start_pos": 372, "end_pos": 372, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VSTANLIGPGHSFYGKFSGI", "down_seq": "MEGEEALPAGSAAGPEQPQA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72959032", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R372", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72959031", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R372", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.353.353", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q15911-1.354.354", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15911-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15911-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15911-1.363.363", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.379.379", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GPGHSFYGKFSGIRMEGEEA", "down_seq": "PAGSAAGPEQPQAGLLTPST", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "10", "frequency": "0.3", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient count (10/3601).", "chr_id": "16", "chr_pos": "72959011", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L379", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q15911-1.363.363", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.372.372", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.428.428", "start_pos": 428, "end_pos": 428, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "rs376681846", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376681846", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376681846", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376681846", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376681846", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376681846#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376681846", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376681846", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SSVLKTPITSVPLGPLASSP", "down_seq": "KSSEGKDSGAAEGEKQEVGD", "snv": [ { "evidence": [ { "id": "rs376681846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376681846" }, { "id": "rs376681846", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376681846" }, { "id": "rs376681846", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376681846#frequency_tab" }, { "id": "rs376681846", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376681846" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TKS->NKS).", "chr_id": "16", "chr_pos": "72958863", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T428", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "site_lbl": "Thr428" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15911-1.425.425", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.426.426", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.488.488", "start_pos": 488, "end_pos": 488, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EEEEAEEEEEEEEEEEEEEE", "down_seq": "EGCKGLFPSELDEELEDRPH", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72958682", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D488", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NSTHLPDKPSSMEQSTGESH", "down_seq": "PLDSLRAPFNERLAESTASA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72960004", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G48", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q15911-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.66.66", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.544.544", "start_pos": 544, "end_pos": 544, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ALSNQSISNSPLMPNVLQTL", "down_seq": "RGTASTSSNSASSFVVFDGA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72958515", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S544", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.526.526", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q15911-1.529.529", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15911-1.533.533", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.547.547", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15911-1.557.557", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.555.555", "start_pos": 555, "end_pos": 555, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1402890324", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402890324", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1402890324", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402890324#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1402890324", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402890324", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LMPNVLQTLSRGTASTSSNS", "down_seq": "SSFVVFDGANRRNRLSFNSE", "snv": [ { "evidence": [ { "id": "rs1402890324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402890324" }, { "id": "rs1402890324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402890324#frequency_tab" }, { "id": "rs1402890324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402890324" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "16", "chr_pos": "72958483", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A555", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15911-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15911-1.547.547", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.571.571", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15911-1.574.574", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.557.557", "start_pos": 557, "end_pos": 557, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PNVLQTLSRGTASTSSNSAS", "down_seq": "FVVFDGANRRNRLSFNSEGV", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72958476", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S557", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15911-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15911-1.547.547", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.555.555", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.571.571", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.574.574", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.582.582", "start_pos": 582, "end_pos": 582, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144442230", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144442230", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144442230", "url": "https://www.ensembl.org/id/rs2144442230", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DGANRRNRLSFNSEGVRANV", "down_seq": "EGGRRLDFADESANKDNATA", "snv": [ { "evidence": [ { "id": "rs2144442230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144442230" }, { "id": "rs2144442230", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144442230" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "16", "chr_pos": "72958402", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A582", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q15911-1.571.571", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15911-1.574.574", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.585.585", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15911-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.599.599", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.585.585", "start_pos": 585, "end_pos": 585, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NRRNRLSFNSEGVRANVAEG", "down_seq": "RRLDFADESANKDNATAPEP", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "16", "chr_pos": "72958393", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G585", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q15911-1.571.571", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15911-1.574.574", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.592.592", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.599.599", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.592.592", "start_pos": 592, "end_pos": 592, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200693897", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200693897", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200693897", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200693897", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200693897", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200693897#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200693897", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200693897", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FNSEGVRANVAEGGRRLDFA", "down_seq": "ESANKDNATAPEPNESTEGD", "snv": [ { "evidence": [ { "id": "rs200693897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200693897" }, { "id": "rs200693897", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200693897" }, { "id": "rs200693897", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200693897#frequency_tab" }, { "id": "rs200693897", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200693897" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "16", "chr_pos": "72958372", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D592", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.574.574", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15911-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.585.585", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.599.599", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.599.599", "start_pos": 599, "end_pos": 599, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ANVAEGGRRLDFADESANKD", "down_seq": "ATAPEPNESTEGDDGGFVPH", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72958350", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N599", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15911-1.582.582", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15911-1.585.585", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.592.592", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.620.620", "start_pos": 620, "end_pos": 620, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "ATAPEPNESTEGDDGGFVPH", "down_seq": "QHAGSLCELGVGECPSGSGV", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72958288", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H620", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.66.66", "start_pos": 66, "end_pos": 66, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SHGPLDSLRAPFNERLAEST", "down_seq": "SAGPPSEPASKEVTCNECSA", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "16", "chr_pos": "72959950", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A66", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15911-1.60.60", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.767.767", "start_pos": 767, "end_pos": 767, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1961338875", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1961338875", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1961338875", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1961338875", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SDKHLNNMQNLQNGGGEQVF", "down_seq": "HTAGAAAAAVAAAAAAANIS", "snv": [ { "evidence": [ { "id": "rs1961338875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1961338875" }, { "id": "rs1961338875", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1961338875" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SHT->NHT).", "chr_id": "16", "chr_pos": "72957846", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S767", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q15911-1.773.773", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15911-1.775.775", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15911-1.777.777", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15911-1.780.780", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.781.781", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15911-1.786.786", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.787.787", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.773.773", "start_pos": 773, "end_pos": 773, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NMQNLQNGGGEQVFSHTAGA", "down_seq": "AAAVAAAAAAANISSSCGAP", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72957828", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A773", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q15911-1.767.767", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.775.775", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.777.777", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.780.780", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15911-1.781.781", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15911-1.786.786", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.787.787", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15911-1.788.788", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.775.775", "start_pos": 775, "end_pos": 775, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QNLQNGGGEQVFSHTAGAAA", "down_seq": "AVAAAAAAANISSSCGAPSP", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "16", "chr_pos": "72957822", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A775", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q15911-1.767.767", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.773.773", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.777.777", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15911-1.780.780", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15911-1.781.781", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.786.786", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q15911-1.787.787", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15911-1.788.788", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.777.777", "start_pos": 777, "end_pos": 777, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LQNGGGEQVFSHTAGAAAAA", "down_seq": "AAAAAAANISSSCGAPSPTK", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72957816", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V777", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q15911-1.767.767", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.773.773", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.775.775", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.780.780", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.781.781", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.786.786", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15911-1.787.787", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.788.788", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.780.780", "start_pos": 780, "end_pos": 780, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GGGEQVFSHTAGAAAAAVAA", "down_seq": "AAAANISSSCGAPSPTKPKT", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72957807", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A780", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15911-1.767.767", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.773.773", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15911-1.775.775", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.777.777", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15911-1.781.781", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15911-1.786.786", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.787.787", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q15911-1.788.788", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.781.781", "start_pos": 781, "end_pos": 781, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GGEQVFSHTAGAAAAAVAAA", "down_seq": "AAANISSSCGAPSPTKPKTK", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "72957804", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A781", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q15911-1.767.767", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15911-1.773.773", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15911-1.775.775", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.777.777", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15911-1.780.780", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15911-1.786.786", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q15911-1.787.787", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.788.788", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.786.786", "start_pos": 786, "end_pos": 786, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2144435420", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144435420", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2144435420", "url": "https://www.ensembl.org/id/rs2144435420", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FSHTAGAAAAAVAAAAAAAN", "down_seq": "SSSCGAPSPTKPKTKPTWRC", "snv": [ { "evidence": [ { "id": "rs2144435420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144435420" }, { "id": "rs2144435420", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2144435420" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "16", "chr_pos": "72957789", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I786", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.767.767", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q15911-1.773.773", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15911-1.775.775", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15911-1.777.777", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15911-1.780.780", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q15911-1.781.781", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15911-1.787.787", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.788.788", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.787.787", "start_pos": 787, "end_pos": 787, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1038732726", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1038732726", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1038732726", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1038732726#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1038732726", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1038732726", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1038732726", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1038732726", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SHTAGAAAAAVAAAAAAANI", "down_seq": "SSCGAPSPTKPKTKPTWRCE", "snv": [ { "evidence": [ { "id": "rs1038732726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1038732726" }, { "id": "rs1038732726", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1038732726#frequency_tab" }, { "id": "rs1038732726", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1038732726" }, { "id": "rs1038732726", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1038732726" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "16", "chr_pos": "72957786", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S787", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.767.767", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15911-1.773.773", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q15911-1.775.775", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q15911-1.777.777", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.780.780", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15911-1.781.781", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15911-1.786.786", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15911-1.788.788", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.788.788", "start_pos": 788, "end_pos": 788, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751768690", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751768690", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751768690", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751768690", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751768690", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751768690", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HTAGAAAAAVAAAAAAANIS", "down_seq": "SCGAPSPTKPKTKPTWRCEV", "snv": [ { "evidence": [ { "id": "rs751768690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751768690" }, { "id": "rs751768690", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751768690" }, { "id": "rs751768690", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751768690" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSC->NSC).", "chr_id": "16", "chr_pos": "72957783", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S788", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q15911-1.773.773", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q15911-1.775.775", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q15911-1.777.777", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q15911-1.780.780", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.781.781", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.786.786", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15911-1.787.787", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.820.820", "start_pos": 820, "end_pos": 820, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1344399327", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344399327", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1344399327", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1344399327", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1344399327", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1344399327", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TKPTWRCEVCDYETNVARNL", "down_seq": "IHMTSEKHMHNMMLLQQNMT", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" }, { "id": "rs1344399327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344399327" }, { "id": "rs1344399327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1344399327" }, { "id": "rs1344399327", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1344399327" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLC).", "chr_id": "16", "chr_pos": "72957688", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R820", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q15911-1.829.829", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15911-1.833.833", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.829.829", "start_pos": 829, "end_pos": 829, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "CDYETNVARNLRIHMTSEKH", "down_seq": "HNMMLLQQNMTQIQHNRHLG", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "55594", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72957660", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M829", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15911-1.820.820", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.833.833", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.846.846", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.833.833", "start_pos": 833, "end_pos": 833, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1597014147", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1597014147", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1597014147", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1597014147#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1597014147", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1597014147", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "TNVARNLRIHMTSEKHMHNM", "down_seq": "LLQQNMTQIQHNRHLGLGSL", "snv": [ { "evidence": [ { "id": "rs1597014147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1597014147" }, { "id": "rs1597014147", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1597014147#frequency_tab" }, { "id": "rs1597014147", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1597014147" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMM->NMT).", "chr_id": "16", "chr_pos": "72957648", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M833", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15911-1.820.820", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.829.829", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15911-1.846.846", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.846.846", "start_pos": 846, "end_pos": 846, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EKHMHNMMLLQQNMTQIQHN", "down_seq": "HLGLGSLPSPAEAELYQYYL", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "72957610", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R846", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "16", "chr_pos": "72957609", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R846", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15911-1.829.829", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q15911-1.833.833", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.873.873", "start_pos": 873, "end_pos": 873, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LPSPAEAELYQYYLAQNMNL", "down_seq": "NLKMDSAASDAQFMMSGFQL", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "16", "chr_pos": "72957529", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P873", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.940.940", "start_pos": 940, "end_pos": 940, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GQLVSEELMNLGESFIQTND", "down_seq": "SLKLFQCAVCNKFTTDNLDM", "snv": [ { "evidence": [ { "id": "Q15911", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15911" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDP->NDS).", "chr_id": "16", "chr_pos": "72950867", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P940", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q15911-1.952.952", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q15911-1.953.953", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.952.952", "start_pos": 952, "end_pos": 952, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs983727854", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs983727854", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs983727854", "url": "https://www.ncbi.nlm.nih.gov/snp/rs983727854#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs983727854", "url": "http://gnomad.broadinstitute.org/awesome?query=rs983727854", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs983727854", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs983727854", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ESFIQTNDPSLKLFQCAVCN", "down_seq": "FTTDNLDMLGLHMNVERSLS", "snv": [ { "evidence": [ { "id": "rs983727854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs983727854" }, { "id": "rs983727854", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs983727854#frequency_tab" }, { "id": "rs983727854", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs983727854" }, { "id": "rs983727854", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs983727854" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KFT->NFT).", "chr_id": "16", "chr_pos": "72950829", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K952", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q15911-1.940.940", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15911-1.953.953", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.970.970", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.953.953", "start_pos": 953, "end_pos": 953, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1960956420", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1960956420", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1960956420", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1960956420", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "SFIQTNDPSLKLFQCAVCNK", "down_seq": "TTDNLDMLGLHMNVERSLSE", "snv": [ { "evidence": [ { "id": "rs1960956420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1960956420" }, { "id": "rs1960956420", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1960956420" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKF->NKC).", "chr_id": "16", "chr_pos": "72950827", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F953", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q15911-1.940.940", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15911-1.952.952", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.970.970", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.970.970", "start_pos": 970, "end_pos": 970, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746690419", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746690419", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746690419", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746690419", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746690419", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746690419#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs746690419", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746690419", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CNKFTTDNLDMLGLHMNVER", "down_seq": "LSEDEWKAVMGDSYQCKLCR", "snv": [ { "evidence": [ { "id": "rs746690419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746690419" }, { "id": "rs746690419", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746690419" }, { "id": "rs746690419", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746690419#frequency_tab" }, { "id": "rs746690419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746690419" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "16", "chr_pos": "72950776", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S970", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.952.952", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q15911-1.953.953", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.1180.1180", "start_pos": 1180, "end_pos": 1180, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SETAADPEELAKDQEGGASS", "down_seq": "QAEKELTDSPATSKRISFPG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser1180" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q15911-1.1197.1197", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.1197.1197", "start_pos": 1197, "end_pos": 1197, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ASSSQAEKELTDSPATSKRI", "down_seq": "FPGSSESPLSSKRPKTAEEI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1197" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q15911-1.1180.1180", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.1201.1201", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.1204.1204", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.1208.1208", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.1201.1201", "start_pos": 1201, "end_pos": 1201, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QAEKELTDSPATSKRISFPG", "down_seq": "SESPLSSKRPKTAEEIKPEQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1201" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q15911-1.1197.1197", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.1204.1204", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.1208.1208", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.1204.1204", "start_pos": 1204, "end_pos": 1204, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KELTDSPATSKRISFPGSSE", "down_seq": "PLSSKRPKTAEEIKPEQMYQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1204" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q15911-1.1197.1197", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q15911-1.1201.1201", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.1208.1208", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.1247.1247", "start_pos": 1247, "end_pos": 1247, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YCKYSNADVNRLRVHAMTQH", "down_seq": "VQPMLRCPLCQDMLNNKIHL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1247" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q15911-1.1229.1229", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.1245.1245", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.1588.1588", "start_pos": 1588, "end_pos": 1588, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SHLHKLKRALQESATGQPEP", "down_seq": "SSPDNKPFKCNTCNVAYSQS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr1588" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q15911-1.1589.1589", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.1590.1590", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.1606.1606", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.1589.1589", "start_pos": 1589, "end_pos": 1589, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HLHKLKRALQESATGQPEPT", "down_seq": "SPDNKPFKCNTCNVAYSQSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser1589" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q15911-1.1588.1588", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15911-1.1590.1590", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15911-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.1606.1606", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.1590.1590", "start_pos": 1590, "end_pos": 1590, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LHKLKRALQESATGQPEPTS", "down_seq": "PDNKPFKCNTCNVAYSQSST", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1590" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15911-1.1588.1588", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q15911-1.1589.1589", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.1606.1606", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.2169.2169", "start_pos": 2169, "end_pos": 2169, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RTRITDDQLRVLRQYFDINN", "down_seq": "PSEEQIKEMADKSGLPQKVI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser2169" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.2149.2149", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q15911-1.2170.2170", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.2180.2180", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.2207.2207", "start_pos": 2207, "end_pos": 2207, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KVIKHWFRNTLFKERQRNKD", "down_seq": "PYNFSNPPITSLEELKIDSR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser2207" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q15911-1.2209.2209", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.2209.2209", "start_pos": 2209, "end_pos": 2209, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IKHWFRNTLFKERQRNKDSP", "down_seq": "NFSNPPITSLEELKIDSRPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Tyr2209" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q15911-1.2207.2207", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.2437.2437", "start_pos": 2437, "end_pos": 2437, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ATFNSKTEAGDEKPKLAEAP", "down_seq": "AQPNQTQEKQGQPKPELQQQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser2437" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q15911-1.2427.2427", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.2623.2623", "start_pos": 2623, "end_pos": 2623, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPSTPTSTMNTLKRKLEEKA", "down_seq": "ASPGENDSGTGGEEPQRDKR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser2623" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q15911-1.2615.2617", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.2625.2625", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q15911-1.2628.2628", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.2643.2643", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.2625.2625", "start_pos": 2625, "end_pos": 2625, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "STPTSTMNTLKRKLEEKASA", "down_seq": "PGENDSGTGGEEPQRDKRLR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser2625" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q15911-1.2615.2617", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.2623.2623", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.2628.2628", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.2643.2643", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome of resting human platelets.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A", "evidence": [ { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SDGSAKSSCVSKDVPNNVDL", "down_seq": "KFDGFVLYGKRKPILMCFLC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" } ], "site_lbl": "Ser267" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q15911-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q15911-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15911-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q15911-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.270.270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.2786.2786", "start_pos": 2786, "end_pos": 2786, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DGTSFSHLPPSSSDGQGVPL", "down_seq": "PVSKTMELSPRTLLSPSSIK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "site_lbl": "Ser2786" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q15911-1.2766.2766", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.2789.2789", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.2795.2795", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q15911-1.2806.2806", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2795.2795", "start_pos": 2795, "end_pos": 2795, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PSSSDGQGVPLSPVSKTMEL", "down_seq": "PRTLLSPSSIKVEGIEDFES", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "site_lbl": "Ser2795" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15911-1.2786.2786", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q15911-1.2789.2789", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.2806.2806", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.2892.2892", "start_pos": 2892, "end_pos": 2892, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NEGLTKAAMMAMSEYEDRLS", "down_seq": "GLVSPAPSFYSKEYDNEGTV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "site_lbl": "Ser2892" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15911-1.2889.2889", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.2896.2896", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.2910.2910", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.2896.2896", "start_pos": 2896, "end_pos": 2896, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TKAAMMAMSEYEDRLSSGLV", "down_seq": "PAPSFYSKEYDNEGTVDYSE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "site_lbl": "Ser2896" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q15911-1.2889.2889", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.2892.2892", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.2910.2910", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q15911-1.2913.2913", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.3409.3409", "start_pos": 3409, "end_pos": 3409, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QKVQQQQPKASQTPVPPGAP", "down_seq": "PDKDPAKESPKPEEQKNTPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser3409" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q15911-1.3416.3416", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q15911-1.3418.3418", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q15911-1.3425.3425", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q15911-1.3428.3428", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.3418.3418", "start_pos": 3418, "end_pos": 3418, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ASQTPVPPGAPSPDKDPAKE", "down_seq": "PKPEEQKNTPREVSPLLPKL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser3418" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q15911-1.3409.3409", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q15911-1.3416.3416", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.3425.3425", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q15911-1.3428.3428", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.3432.3432", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.3432.3432", "start_pos": 3432, "end_pos": 3432, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KDPAKESPKPEEQKNTPREV", "down_seq": "PLLPKLPEEPEAESKSADSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "site_lbl": "Ser3432" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q15911-1.3416.3416", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q15911-1.3418.3418", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q15911-1.3425.3425", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.3428.3428", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.3446.3446", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.3593.3593", "start_pos": 3593, "end_pos": 3593, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PHSACFPDPSTASTSQSAAH", "down_seq": "NDSPPPPSAAAPSSASPHAS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "site_lbl": "Ser3593" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q15911-1.3604.3604", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.3611.3611", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q15911-1.425.425", "start_pos": 425, "end_pos": 425, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLTSSVLKTPITSVPLGPLA", "down_seq": "SPTKSSEGKDSGAAEGEKQE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser425" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q15911-1.426.426", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q15911-1.428.428", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LTSSVLKTPITSVPLGPLAS", "down_seq": "PTKSSEGKDSGAAEGEKQEV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser426" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q15911-1.425.425", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q15911-1.428.428", "categories": [ "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.526.526", "start_pos": 526, "end_pos": 526, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RPHEEPGAAAGSSSKKDLAL", "down_seq": "NQSISNSPLMPNVLQTLSRG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser526" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q15911-1.529.529", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q15911-1.533.533", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.544.544", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.529.529", "start_pos": 529, "end_pos": 529, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EEPGAAAGSSSKKDLALSNQ", "down_seq": "ISNSPLMPNVLQTLSRGTAS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser529" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q15911-1.526.526", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q15911-1.533.533", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q15911-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q15911-1.547.547", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q15911-1.533.533", "start_pos": 533, "end_pos": 533, "uniprot_canonical_ac": "Q15911-1", "length": 3703, "uniprot_id": "ZFHX3_HUMAN", "protein_name": "Zinc finger homeobox protein 3", "refseq_ac": "NP_001158238", "refseq_name": "zinc finger homeobox protein 3 isoform B", "gene_name": "ZFHX3", "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "iPTMnet", "id": "Q15911-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAAGSSSKKDLALSNQSISN", "down_seq": "PLMPNVLQTLSRGTASTSSN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15911", "url": "https://www.uniprot.org/uniprotkb/Q15911" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q15911", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15911" } ], "site_lbl": "Ser533" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "2349", "end_pos": "2349" }, { "start_pos": "2615", "end_pos": "2617" }, { "start_pos": "2806", "end_pos": "2806" }, { "start_pos": "3258", "end_pos": "3258" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1606", "end_pos": "1606" }, { "start_pos": "3667", "end_pos": "3667" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "1049", "end_pos": "1049" }, { "start_pos": "1056", "end_pos": "1056" }, { "start_pos": "1063", "end_pos": "1063" }, { "start_pos": "1095", "end_pos": "1095" }, { "start_pos": "1104", "end_pos": "1104" }, { "start_pos": "1108", "end_pos": "1108" }, { "start_pos": "1114", "end_pos": "1114" }, { "start_pos": "1115", "end_pos": "1115" }, { "start_pos": "1119", "end_pos": "1119" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1138", "end_pos": "1138" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1229", "end_pos": "1229" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1288", "end_pos": "1288" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "1314", "end_pos": "1314" }, { "start_pos": "1379", "end_pos": "1379" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "1396", "end_pos": "1396" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "1508", "end_pos": "1508" }, { "start_pos": "1518", "end_pos": "1518" }, { "start_pos": "1549", "end_pos": "1549" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "1642", "end_pos": "1642" }, { "start_pos": "1656", "end_pos": "1656" }, { "start_pos": "1658", "end_pos": "1658" }, { "start_pos": "1663", "end_pos": "1663" }, { "start_pos": "1668", "end_pos": "1668" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "1774", "end_pos": "1774" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "1851", "end_pos": "1851" }, { "start_pos": "1875", "end_pos": "1875" }, { "start_pos": "1884", "end_pos": "1884" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "1906", "end_pos": "1906" }, { "start_pos": "1935", "end_pos": "1935" }, { "start_pos": "1944", "end_pos": "1944" }, { "start_pos": "1963", "end_pos": "1963" }, { "start_pos": "1965", "end_pos": "1965" }, { "start_pos": "1986", "end_pos": "1986" }, { "start_pos": "2052", "end_pos": "2052" }, { "start_pos": "2057", "end_pos": "2057" }, { "start_pos": "2061", "end_pos": "2061" }, { "start_pos": "2068", "end_pos": "2068" }, { "start_pos": "2098", "end_pos": "2098" }, { "start_pos": "2138", "end_pos": "2138" }, { "start_pos": "2148", "end_pos": "2148" }, { "start_pos": "2149", "end_pos": "2149" }, { "start_pos": "2170", "end_pos": "2170" }, { "start_pos": "2180", "end_pos": "2180" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2262", "end_pos": "2262" }, { "start_pos": "2274", "end_pos": "2274" }, { "start_pos": "2294", "end_pos": "2294" }, { "start_pos": "2318", "end_pos": "2318" }, { "start_pos": "2322", "end_pos": "2322" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "2331", "end_pos": "2331" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "2405", "end_pos": "2405" }, { "start_pos": "2427", "end_pos": "2427" }, { "start_pos": "2464", "end_pos": "2464" }, { "start_pos": "2487", "end_pos": "2487" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "2524", "end_pos": "2524" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "2628", "end_pos": "2628" }, { "start_pos": "2643", "end_pos": "2643" }, { "start_pos": "2647", "end_pos": "2647" }, { "start_pos": "2656", "end_pos": "2656" }, { "start_pos": "2666", "end_pos": "2666" }, { "start_pos": "2668", "end_pos": "2668" }, { "start_pos": "2677", "end_pos": "2677" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "2733", "end_pos": "2733" }, { "start_pos": "2749", "end_pos": "2749" }, { "start_pos": "2763", "end_pos": "2763" }, { "start_pos": "2766", "end_pos": "2766" }, { "start_pos": "2789", "end_pos": "2789" }, { "start_pos": "2824", "end_pos": "2824" }, { "start_pos": "2833", "end_pos": "2833" }, { "start_pos": "2841", "end_pos": "2841" }, { "start_pos": "2845", "end_pos": "2845" }, { "start_pos": "2853", "end_pos": "2853" }, { "start_pos": "2857", "end_pos": "2857" }, { "start_pos": "2889", "end_pos": "2889" }, { "start_pos": "2910", "end_pos": "2910" }, { "start_pos": "2913", "end_pos": "2913" }, { "start_pos": "2931", "end_pos": "2931" }, { "start_pos": "2950", "end_pos": "2950" }, { "start_pos": "2962", "end_pos": "2962" }, { "start_pos": "2968", "end_pos": "2968" }, { "start_pos": "2983", "end_pos": "2983" }, { "start_pos": "2990", "end_pos": "2990" }, { "start_pos": "2998", "end_pos": "2998" }, { "start_pos": "3001", "end_pos": "3001" }, { "start_pos": "3002", "end_pos": "3002" }, { "start_pos": "3005", "end_pos": "3005" }, { "start_pos": "3032", "end_pos": "3032" }, { "start_pos": "3036", "end_pos": "3036" }, { "start_pos": "3056", "end_pos": "3056" }, { "start_pos": "3102", "end_pos": "3102" }, { "start_pos": "3105", "end_pos": "3105" }, { "start_pos": "3107", "end_pos": "3107" }, { "start_pos": "3117", "end_pos": "3117" }, { "start_pos": "3127", "end_pos": "3127" }, { "start_pos": "3133", "end_pos": "3133" }, { "start_pos": "3156", "end_pos": "3156" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "3177", "end_pos": "3177" }, { "start_pos": "3182", "end_pos": "3182" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "3221", "end_pos": "3221" }, { "start_pos": "3266", "end_pos": "3266" }, { "start_pos": "3271", "end_pos": "3271" }, { "start_pos": "3275", "end_pos": "3275" }, { "start_pos": "3326", "end_pos": "3326" }, { "start_pos": "3333", "end_pos": "3333" }, { "start_pos": "3416", "end_pos": "3416" }, { "start_pos": "3425", "end_pos": "3425" }, { "start_pos": "3428", "end_pos": "3428" }, { "start_pos": "3446", "end_pos": "3446" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "3472", "end_pos": "3472" }, { "start_pos": "3475", "end_pos": "3475" }, { "start_pos": "3513", "end_pos": "3513" }, { "start_pos": "3521", "end_pos": "3521" }, { "start_pos": "3535", "end_pos": "3535" }, { "start_pos": "3537", "end_pos": "3537" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "3604", "end_pos": "3604" }, { "start_pos": "3611", "end_pos": "3611" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "3644", "end_pos": "3644" }, { "start_pos": "3659", "end_pos": "3659" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "488", "end_pos": "488" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "555", "end_pos": "555" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "582", "end_pos": "582" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "775", "end_pos": "775" }, { "start_pos": "777", "end_pos": "777" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "786", "end_pos": "786" }, { "start_pos": "787", "end_pos": "787" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "829", "end_pos": "829" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "846", "end_pos": "846" }, { "start_pos": "873", "end_pos": "873" }, { "start_pos": "940", "end_pos": "940" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "970", "end_pos": "970" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1180", "end_pos": "1180" }, { "start_pos": "1197", "end_pos": "1197" }, { "start_pos": "1201", "end_pos": "1201" }, { "start_pos": "1204", "end_pos": "1204" }, { "start_pos": "1208", "end_pos": "1208" }, { "start_pos": "1247", "end_pos": "1247" }, { "start_pos": "1588", "end_pos": "1588" }, { "start_pos": "1589", "end_pos": "1589" }, { "start_pos": "1590", "end_pos": "1590" }, { "start_pos": "2169", "end_pos": "2169" }, { "start_pos": "2207", "end_pos": "2207" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2437", "end_pos": "2437" }, { "start_pos": "2623", "end_pos": "2623" }, { "start_pos": "2625", "end_pos": "2625" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "2786", "end_pos": "2786" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "2892", "end_pos": "2892" }, { "start_pos": "2896", "end_pos": "2896" }, { "start_pos": "3409", "end_pos": "3409" }, { "start_pos": "3418", "end_pos": "3418" }, { "start_pos": "3432", "end_pos": "3432" }, { "start_pos": "3593", "end_pos": "3593" }, { "start_pos": "3677", "end_pos": "3677" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "428", "end_pos": "428" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "571", "end_pos": "571" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q15911-1.526.526", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q15911-1.529.529", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q15911-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q15911-1.547.547", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96NJ3-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q96NJ3", "url": "https://oglcnac.org/atlas/detail/Q96NJ3" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] } ], "crossref": [ { "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96NJ3", "url": "https://oglcnac.org/atlas/detail/Q96NJ3", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "STHLGEKSYKCDQYGKNFSQ", "down_seq": "QDLIVHCKTHSGKTPYEFHE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser272", "evidence": [ { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "Q96NJ3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96NJ3" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96NJ3-1.347.347", "start_pos": 347, "end_pos": 347, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs202025427", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202025427", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs202025427", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202025427", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs202025427", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202025427#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs202025427", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202025427", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs202025427", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202025427", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RSSSLHNHHRVHTGEMPYKC", "down_seq": "ECGKGFGFRSLLCIHQGVHT", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" }, { "id": "rs202025427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202025427" }, { "id": "rs202025427", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202025427" }, { "id": "rs202025427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202025427#frequency_tab" }, { "id": "rs202025427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202025427" }, { "id": "rs202025427", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202025427" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); n-glyco-sequon-gain (DEC->NEC).", "chr_id": "19", "chr_pos": "44387206", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D347", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q96NJ3-1.328.328", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YLSQEVLHCWQIWKQRIRDL", "down_seq": "VSQDYIVNLQEECSPHLEDV", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "12", "frequency": "0.4", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 2 filters: patient count (12/2670); num. of cancers (4).", "chr_id": "19", "chr_pos": "44387991", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T85", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q96NJ3-1.83.83", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1307536485", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307536485", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1307536485", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307536485", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "EEWAGISLQISENENYVVNA", "down_seq": "IKNQDITAWQSLTQVLTPES", "snv": [ { "evidence": [ { "id": "rs1307536485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307536485" }, { "id": "rs1307536485", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307536485" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAI->NAT).", "chr_id": "19", "chr_pos": "44387859", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I129", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q96NJ3-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q96NJ3-1.140.140", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1264961660", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264961660", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1264961660", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1264961660#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1264961660", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264961660", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ISLQISENENYVVNAIIKNQ", "down_seq": "ITAWQSLTQVLTPESWRKAN", "snv": [ { "evidence": [ { "id": "rs1264961660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264961660" }, { "id": "rs1264961660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1264961660#frequency_tab" }, { "id": "rs1264961660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1264961660" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "19", "chr_pos": "44387845", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D134", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q96NJ3-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q96NJ3-1.140.140", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs145772874", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145772874", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs145772874", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145772874", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs145772874", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145772874", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs145772874", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145772874#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs145772874", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145772874", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ENENYVVNAIIKNQDITAWQ", "down_seq": "LTQVLTPESWRKANIMTEPQ", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" }, { "id": "rs145772874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145772874" }, { "id": "rs145772874", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145772874" }, { "id": "rs145772874", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145772874" }, { "id": "rs145772874", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145772874#frequency_tab" }, { "id": "rs145772874", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145772874" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "19", "chr_pos": "44387826", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S140", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q96NJ3-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q96NJ3-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q96NJ3-1.156.156", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs113605259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113605259", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs113605259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113605259", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs113605259", "url": "https://www.ncbi.nlm.nih.gov/snp/rs113605259#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs113605259", "url": "http://gnomad.broadinstitute.org/awesome?query=rs113605259", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "TAWQSLTQVLTPESWRKANI", "down_seq": "TEPQNSQGRYKGIYMEEKLY", "snv": [ { "evidence": [ { "id": "rs113605259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113605259" }, { "id": "rs113605259", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113605259" }, { "id": "rs113605259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs113605259#frequency_tab" }, { "id": "rs113605259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs113605259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIM->NIT).", "chr_id": "19", "chr_pos": "44387778", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M156", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q96NJ3-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q96NJ3-1.173.173", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.173.173", "start_pos": 173, "end_pos": 173, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ANIMTEPQNSQGRYKGIYME", "down_seq": "KLYRRAQHDDSLSWTSCDHH", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "44387726", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E173", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q96NJ3-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q96NJ3-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q96NJ3-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q96NJ3-1.186.186", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.182.182", "start_pos": 182, "end_pos": 182, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SQGRYKGIYMEEKLYRRAQH", "down_seq": "DSLSWTSCDHHESQECKGED", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "19", "chr_pos": "44387701", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D182", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q96NJ3-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q96NJ3-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q96NJ3-1.186.186", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.184.184", "start_pos": 184, "end_pos": 184, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs748561574", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748561574", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748561574", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748561574", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748561574", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748561574", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs748561574", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748561574", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GRYKGIYMEEKLYRRAQHDD", "down_seq": "LSWTSCDHHESQECKGEDPG", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" }, { "id": "rs748561574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748561574" }, { "id": "rs748561574", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748561574" }, { "id": "rs748561574", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748561574" }, { "id": "rs748561574", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748561574" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "19", "chr_pos": "44387694", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S184", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q96NJ3-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q96NJ3-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q96NJ3-1.186.186", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.186.186", "start_pos": 186, "end_pos": 186, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs140177640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140177640", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs140177640", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140177640", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs140177640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140177640", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs140177640", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140177640", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YKGIYMEEKLYRRAQHDDSL", "down_seq": "WTSCDHHESQECKGEDPGRH", "snv": [ { "evidence": [ { "id": "rs140177640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140177640" }, { "id": "rs140177640", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140177640" }, { "id": "rs140177640", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140177640" }, { "id": "rs140177640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140177640" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SWT->NWT).", "chr_id": "19", "chr_pos": "44387688", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "S186", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q96NJ3-1.173.173", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q96NJ3-1.182.182", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q96NJ3-1.184.184", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs910030953", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs910030953", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs910030953", "url": "https://www.ncbi.nlm.nih.gov/snp/rs910030953#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs910030953", "url": "http://gnomad.broadinstitute.org/awesome?query=rs910030953", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RHPSCGKNLGMKSTVEKRNA", "down_seq": "HVLPQPFPCNNCGVAFADDT", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" }, { "id": "rs910030953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs910030953" }, { "id": "rs910030953", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs910030953#frequency_tab" }, { "id": "rs910030953", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs910030953" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "19", "chr_pos": "44387572", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A225", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.308.308", "start_pos": 308, "end_pos": 308, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YEFHEWPMGCKQSSDLPRYQ", "down_seq": "VSSGDKPYKCKECGKGFRRS", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "19", "chr_pos": "44387321", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K308", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q96NJ3-1.328.328", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.328.328", "start_pos": 328, "end_pos": 328, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772929619", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772929619", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772929619", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772929619", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772929619", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772929619#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772929619", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772929619", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KVSSGDKPYKCKECGKGFRR", "down_seq": "SSLHNHHRVHTGEMPYKCDE", "snv": [ { "evidence": [ { "id": "rs772929619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772929619" }, { "id": "rs772929619", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772929619" }, { "id": "rs772929619", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772929619#frequency_tab" }, { "id": "rs772929619", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772929619" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "19", "chr_pos": "44387262", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S328", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q96NJ3-1.308.308", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q96NJ3-1.347.347", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.397.397", "start_pos": 397, "end_pos": 397, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "CGKGFDQSSNLLVHQRVHTG", "down_seq": "KPYKCSECGKCFSSSSVLQV", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "44387055", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E397", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q96NJ3-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q96NJ3-1.403.403", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.402.402", "start_pos": 402, "end_pos": 402, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "DQSSNLLVHQRVHTGEKPYK", "down_seq": "SECGKCFSSSSVLQVHWRFH", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "44387040", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "C402", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q96NJ3-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q96NJ3-1.403.403", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.403.403", "start_pos": 403, "end_pos": 403, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1477104224", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477104224", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1477104224", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1477104224#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1477104224", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477104224", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QSSNLLVHQRVHTGEKPYKC", "down_seq": "ECGKCFSSSSVLQVHWRFHT", "snv": [ { "evidence": [ { "id": "rs1477104224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477104224" }, { "id": "rs1477104224", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1477104224#frequency_tab" }, { "id": "rs1477104224", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477104224" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SEC->NEC).", "chr_id": "19", "chr_pos": "44387037", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S403", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q96NJ3-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q96NJ3-1.402.402", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.42.42", "start_pos": 42, "end_pos": 42, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1252425227", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252425227", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1252425227", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1252425227#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LALLDKAQINLYQDVMLENF", "down_seq": "NLMLVRDGIKNNILNLQAKG", "snv": [ { "evidence": [ { "id": "rs1252425227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1252425227" }, { "id": "rs1252425227", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1252425227#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFR->NFT).", "chr_id": "19", "chr_pos": "44392357", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R42", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q96NJ3-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q96NJ3-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q96NJ3-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q96NJ3-1.62.62", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.438.438", "start_pos": 438, "end_pos": 438, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HWRFHTGEKPYRCGECGKGF", "down_seq": "QCTHLHIHQRVHTGEKPYKC", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SQC->NQC).", "chr_id": "19", "chr_pos": "44386932", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S438", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q96NJ3-1.455.455", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.455.455", "start_pos": 455, "end_pos": 455, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KGFSQCTHLHIHQRVHTGEK", "down_seq": "YKCNVCGKDFAYSSVLHTHQ", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (7).", "chr_id": "19", "chr_pos": "44386881", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P455", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q96NJ3-1.438.438", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q96NJ3-1.466.466", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "HQRVHTGEKPYKCNVCGKDF", "down_seq": "YSSVLHTHQRVHTGEKPYKC", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "A", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "19", "chr_pos": "44386848", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "A466", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q96NJ3-1.455.455", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q96NJ3-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q96NJ3-1.484.484", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.481.481", "start_pos": 481, "end_pos": 481, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "CGKDFAYSSVLHTHQRVHTG", "down_seq": "KPYKCEVCGKCFSYSSYFHL", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "44386804", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E481", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q96NJ3-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q96NJ3-1.484.484", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q96NJ3-1.494.494", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.484.484", "start_pos": 484, "end_pos": 484, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774737018", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774737018", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774737018", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774737018", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774737018", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774737018#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774737018", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774737018", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DFAYSSVLHTHQRVHTGEKP", "down_seq": "KCEVCGKCFSYSSYFHLHQR", "snv": [ { "evidence": [ { "id": "rs774737018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774737018" }, { "id": "rs774737018", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774737018" }, { "id": "rs774737018", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774737018#frequency_tab" }, { "id": "rs774737018", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774737018" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YKC->NKC).", "chr_id": "19", "chr_pos": "44386795", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y484", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q96NJ3-1.466.466", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q96NJ3-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q96NJ3-1.494.494", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.494.494", "start_pos": 494, "end_pos": 494, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs757779421", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757779421", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757779421", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757779421", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757779421", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757779421#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs757779421", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757779421", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HQRVHTGEKPYKCEVCGKCF", "down_seq": "YSSYFHLHQRDHIREKPYKC", "snv": [ { "evidence": [ { "id": "rs757779421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757779421" }, { "id": "rs757779421", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757779421" }, { "id": "rs757779421", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757779421#frequency_tab" }, { "id": "rs757779421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757779421" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SYS->NYS).", "chr_id": "19", "chr_pos": "44386764", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S494", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q96NJ3-1.481.481", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q96NJ3-1.484.484", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.515.515", "start_pos": 515, "end_pos": 515, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YSSYFHLHQRDHIREKPYKC", "down_seq": "ECGKGFSRNSDLNVHLRVHT", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DEC->NEC).", "chr_id": "19", "chr_pos": "44386702", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D515", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q96NJ3-1.523.523", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.523.523", "start_pos": 523, "end_pos": 523, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QRDHIREKPYKCDECGKGFS", "down_seq": "NSDLNVHLRVHTGERPYKCK", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "44386677", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R523", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q96NJ3-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q96NJ3-1.536.536", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "ECGKGFSRNSDLNVHLRVHT", "down_seq": "ERPYKCKACGKGFSRNSYLL", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "11", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: patient count (11/4799).", "chr_id": "19", "chr_pos": "44386639", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G536", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q96NJ3-1.523.523", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.557.557", "start_pos": 557, "end_pos": 557, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ERPYKCKACGKGFSRNSYLL", "down_seq": "HQRVHIDETQYTHCERGKDL", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "44386575", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A557", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.55.55", "start_pos": 55, "end_pos": 55, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778844900", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778844900", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778844900", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778844900", "database": "ExAC", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "DVMLENFRNLMLVRDGIKNN", "down_seq": "LNLQAKGLSYLSQEVLHCWQ", "snv": [ { "evidence": [ { "id": "rs778844900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778844900" }, { "id": "rs778844900", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778844900" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNI->NNS).", "chr_id": "19", "chr_pos": "44388081", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I55", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q96NJ3-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q96NJ3-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q96NJ3-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q96NJ3-1.62.62", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.60.60", "start_pos": 60, "end_pos": 60, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NFRNLMLVRDGIKNNILNLQ", "down_seq": "KGLSYLSQEVLHCWQIWKQR", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "44388066", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "A60", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q96NJ3-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q96NJ3-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q96NJ3-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q96NJ3-1.62.62", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FRNLMLVRDGIKNNILNLQA", "down_seq": "GLSYLSQEVLHCWQIWKQRI", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "44388063", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K61", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q96NJ3-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q96NJ3-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q96NJ3-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q96NJ3-1.62.62", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RNLMLVRDGIKNNILNLQAK", "down_seq": "LSYLSQEVLHCWQIWKQRIR", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "44388061", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G62", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q96NJ3-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q96NJ3-1.55.55", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q96NJ3-1.60.60", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q96NJ3-1.61.61", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NJ3-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "Q96NJ3-1", "length": 590, "uniprot_id": "ZN285_HUMAN", "protein_name": "Zinc finger protein 285", "refseq_ac": "NP_001278417", "refseq_name": "zinc finger protein 285 isoform a", "gene_name": "ZNF285", "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NJ3", "url": "https://www.uniprot.org/uniprotkb/Q96NJ3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NJ3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs749067872", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749067872", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749067872", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749067872", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749067872", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749067872#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs749067872", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749067872", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs749067872", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749067872", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LSYLSQEVLHCWQIWKQRIR", "down_seq": "LTVSQDYIVNLQEECSPHLE", "snv": [ { "evidence": [ { "id": "Q96NJ3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NJ3" }, { "id": "rs749067872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749067872" }, { "id": "rs749067872", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749067872" }, { "id": "rs749067872", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749067872#frequency_tab" }, { "id": "rs749067872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749067872" }, { "id": "rs749067872", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749067872" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "19", "chr_pos": "44387998", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D83", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "272", "end_pos": "272" } ] }, { "type": "snv", "site_list": [ { "start_pos": "347", "end_pos": "347" }, { "start_pos": "85", "end_pos": "85" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "182", "end_pos": "182" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "308", "end_pos": "308" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "438", "end_pos": "438" }, { "start_pos": "455", "end_pos": "455" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "494", "end_pos": "494" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "55", "end_pos": "55" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q96NJ3-1.85.85", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1621.1621", "start_pos": 1621, "end_pos": 1621, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86YA3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86YA3" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86YA3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86YA3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "rs1288822945", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288822945", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1288822945", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1288822945#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1288822945", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288822945", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ATLKLASELIQVHKLNKDQA", "down_seq": "ALIQIAQMMASHESIEEVKE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1621", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q86YA3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86YA3" } ] } ], "snv": [ { "evidence": [ { "id": "rs1288822945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288822945" }, { "id": "rs1288822945", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1288822945#frequency_tab" }, { "id": "rs1288822945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288822945" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "112560831", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1621", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86YA3-1.163.163", "start_pos": 163, "end_pos": 163, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1393197798", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393197798", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1393197798", "url": "https://www.ensembl.org/id/rs1393197798", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs975839589", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs975839589", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs975839589", "url": "https://www.ncbi.nlm.nih.gov/snp/rs975839589#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AKKTGPTIFSPFCSMPPLFP", "down_seq": "VGKKDVNNILADPENIVTYK", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr163", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1393197798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393197798" }, { "id": "rs1393197798", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1393197798" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "4", "chr_pos": "112619555", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs975839589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs975839589" }, { "id": "rs975839589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs975839589#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "112619554", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs975839589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs975839589" }, { "id": "rs975839589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs975839589#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "4", "chr_pos": "112619554", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T163", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q86YA3-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q86YA3-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q86YA3-1.179.179", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1660.1660", "start_pos": 1660, "end_pos": 1660, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The ZGRF1 Helicase Promotes Recombinational Repair of Replication-Blocking DNA Damage in Human Cells.", "journal": "Cell reports", "date": "2020", "authors": "Brannvoll A, Xue X, Kwon Y, Kompocholi S, Simonsen AKW, Viswalingam KS, Gonzalez L, Hickson ID, Oestergaard VH, Mankouri HW, Sung P, Lisby M", "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" }, { "database": "RefSeq", "id": "NP_060862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060862" } ], "reference": [ { "type": "PubMed", "id": "32640219", "url": "https://glygen.org/publication/PubMed/32640219" } ] } ], "crossref": [ { "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "32640219", "url": "https://glygen.org/publication/PubMed/32640219", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KELQTHTFPITIIHGVFGAG", "down_seq": "SYLLAVVILFFVQLFEKSEA", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of helicase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" }, { "database": "PubMed", "id": "32640219", "url": "https://glygen.org/publication/PubMed/32640219" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86YA3-1.1014.1014", "start_pos": 1014, "end_pos": 1014, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TSPEENISTLSPVSTFSLNS", "down_seq": "DEDFMVEFSETSLKARTLPD", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSR->NST).", "chr_id": "4", "chr_pos": "112589810", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R1014", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q86YA3-1.1022.1022", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1022.1022", "start_pos": 1022, "end_pos": 1022, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "TLSPVSTFSLNSRDEDFMVE", "down_seq": "SETSLKARTLPDDLHFLNLE", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "112589785", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F1022", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q86YA3-1.1014.1014", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1048.1048", "start_pos": 1048, "end_pos": 1048, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KARTLPDDLHFLNLEGMKKS", "down_seq": "SLENENLQRLSLLSRTQVPL", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "4", "chr_pos": "112587914", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1048", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q86YA3-1.1062.1062", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1062.1062", "start_pos": 1062, "end_pos": 1062, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1449030133", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449030133", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1449030133", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1449030133#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1449030133", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1449030133", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EGMKKSRSLENENLQRLSLL", "down_seq": "RTQVPLITLPRTDGPPDLDS", "snv": [ { "evidence": [ { "id": "rs1449030133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449030133" }, { "id": "rs1449030133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1449030133#frequency_tab" }, { "id": "rs1449030133", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1449030133" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "4", "chr_pos": "112587872", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1062", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q86YA3-1.1048.1048", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1134.1134", "start_pos": 1134, "end_pos": 1134, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750109551", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750109551", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750109551", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750109551", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750109551", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750109551", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EPEDQNETFFSEESREVNPG", "down_seq": "VSLNNISTQSKWLKYQNTSQ", "snv": [ { "evidence": [ { "id": "rs750109551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750109551" }, { "id": "rs750109551", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750109551" }, { "id": "rs750109551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750109551" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "4", "chr_pos": "112587657", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1134", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q86YA3-1.1140.1140", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q86YA3-1.1142.1142", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1140.1140", "start_pos": 1140, "end_pos": 1140, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768069259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768069259", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768069259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768069259", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768069259", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768069259", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ETFFSEESREVNPGDVSLNN", "down_seq": "STQSKWLKYQNTSQCNVATP", "snv": [ { "evidence": [ { "id": "rs768069259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768069259" }, { "id": "rs768069259", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768069259" }, { "id": "rs768069259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768069259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNI->NNT).", "chr_id": "4", "chr_pos": "112587638", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1140", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q86YA3-1.1134.1134", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q86YA3-1.1142.1142", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q86YA3-1.1158.1158", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1142.1142", "start_pos": 1142, "end_pos": 1142, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FFSEESREVNPGDVSLNNIS", "down_seq": "QSKWLKYQNTSQCNVATPNR", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TQS->NQS).", "chr_id": "4", "chr_pos": "112587632", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1142", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q86YA3-1.1134.1134", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q86YA3-1.1140.1140", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q86YA3-1.1158.1158", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1158.1158", "start_pos": 1158, "end_pos": 1158, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779941591", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779941591", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779941591", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779941591", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779941591", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779941591#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779941591", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779941591", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NNISTQSKWLKYQNTSQCNV", "down_seq": "TPNRVDKRITDGFFAEAVSG", "snv": [ { "evidence": [ { "id": "rs779941591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779941591" }, { "id": "rs779941591", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779941591" }, { "id": "rs779941591", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779941591#frequency_tab" }, { "id": "rs779941591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779941591" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "4", "chr_pos": "112587585", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "4", "chr_pos": "112587585", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1158", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q86YA3-1.1140.1140", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q86YA3-1.1142.1142", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1245.1245", "start_pos": 1245, "end_pos": 1245, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KKVLSLNLKQTSKTEEIKNV", "down_seq": "GGSTCYNYSVKDLQEISGSE", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVL->NVS).", "chr_id": "4", "chr_pos": "112587323", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L1245", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1299.1299", "start_pos": 1299, "end_pos": 1299, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1156284105", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156284105", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1156284105", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1156284105#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1156284105", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1156284105", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1156284105", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1156284105", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LPQRQIHIPAVFQSPAHYKQ", "down_seq": "FTSCLIEHLNILLFGLAQNL", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" }, { "id": "rs1156284105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156284105" }, { "id": "rs1156284105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1156284105#frequency_tab" }, { "id": "rs1156284105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1156284105" }, { "id": "rs1156284105", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1156284105" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TFT->NFT).", "chr_id": "4", "chr_pos": "112586465", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1299", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1347.1347", "start_pos": 1347, "end_pos": 1347, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs373824903", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373824903", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373824903", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373824903", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs373824903", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373824903#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs373824903", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373824903", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DISFYTSLKGEKLKNAENNV", "down_seq": "SCHHSQPAKLVMVKKEGPNK", "snv": [ { "evidence": [ { "id": "rs373824903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373824903" }, { "id": "rs373824903", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373824903" }, { "id": "rs373824903", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373824903#frequency_tab" }, { "id": "rs373824903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373824903" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "4", "chr_pos": "112585603", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1347", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1368.1368", "start_pos": 1368, "end_pos": 1368, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1451708037", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451708037", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1451708037", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1451708037#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1451708037", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1451708037", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SCHHSQPAKLVMVKKEGPNK", "down_seq": "RLFYTCDGPKADRCKFFKWL", "snv": [ { "evidence": [ { "id": "rs1451708037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451708037" }, { "id": "rs1451708037", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1451708037#frequency_tab" }, { "id": "rs1451708037", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1451708037" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKG->NKC).", "chr_id": "4", "chr_pos": "112584174", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1368", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q86YA3-1.1372.1372", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1372.1372", "start_pos": 1372, "end_pos": 1372, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs572347444", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572347444", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs572347444", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572347444", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs572347444", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572347444", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs572347444", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572347444#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs572347444", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572347444", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SQPAKLVMVKKEGPNKGRLF", "down_seq": "TCDGPKADRCKFFKWLEDVT", "snv": [ { "evidence": [ { "id": "rs572347444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572347444" }, { "id": "rs572347444", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs572347444" }, { "id": "rs572347444", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs572347444" }, { "id": "rs572347444", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs572347444#frequency_tab" }, { "id": "rs572347444", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs572347444" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YTC->NTC).", "chr_id": "4", "chr_pos": "112584162", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000588697", "site_lbl": "Y1372", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q86YA3-1.1368.1368", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q86YA3-1.1390.1390", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1390.1390", "start_pos": 1390, "end_pos": 1390, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LFYTCDGPKADRCKFFKWLE", "down_seq": "VTPGYSTQEGARPGMVLSDI", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "4", "chr_pos": "112584108", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1390", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q86YA3-1.1372.1372", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.144.144", "start_pos": 144, "end_pos": 144, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2149164709", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2149164709", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2149164709", "url": "https://www.ensembl.org/id/rs2149164709", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QVPKKMVIMESGESAASHEA", "down_seq": "KTGPTIFSPFCSMPPLFPTV", "snv": [ { "evidence": [ { "id": "rs2149164709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2149164709" }, { "id": "rs2149164709", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2149164709" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "4", "chr_pos": "112619610", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K144", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q86YA3-1.163.163", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1467.1467", "start_pos": 1467, "end_pos": 1467, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200350932", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200350932", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200350932", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200350932", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200350932", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200350932", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KKFTTVNPEFYNEPKTKLYL", "down_seq": "LSRKERSSAYSKNDLWVVSK", "snv": [ { "evidence": [ { "id": "rs200350932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200350932" }, { "id": "rs200350932", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200350932" }, { "id": "rs200350932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200350932" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "4", "chr_pos": "112581700", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1467", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q86YA3-1.1470.1470", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1470.1470", "start_pos": 1470, "end_pos": 1470, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TTVNPEFYNEPKTKLYLKLS", "down_seq": "KERSSAYSKNDLWVVSKTLD", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "112581693", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1470", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q86YA3-1.1467.1467", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1494.1494", "start_pos": 1494, "end_pos": 1494, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SSAYSKNDLWVVSKTLDFEL", "down_seq": "TFIACSAFFGPSSINEIEIL", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "4", "chr_pos": "112563233", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D1494", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1525.1525", "start_pos": 1525, "end_pos": 1525, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1216250160", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216250160", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1216250160", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216250160", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PSSINEIEILPLKGYFPSNW", "down_seq": "TNMVVHALLVCNASTELTTL", "snv": [ { "evidence": [ { "id": "rs1216250160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216250160" }, { "id": "rs1216250160", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216250160" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWP->NWT).", "chr_id": "4", "chr_pos": "112563140", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1525", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1576.1576", "start_pos": 1576, "end_pos": 1576, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752978550", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752978550", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752978550", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752978550", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752978550", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752978550#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TLPLTQYLLTTSSPTIVSNK", "down_seq": "VSKRKFIPPAFTNVSTKFEL", "snv": [ { "evidence": [ { "id": "rs752978550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752978550" }, { "id": "rs752978550", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752978550" }, { "id": "rs752978550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752978550#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKR->NKT).", "chr_id": "4", "chr_pos": "112560966", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1576", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1687.1687", "start_pos": 1687, "end_pos": 1687, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1741305488", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1741305488", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1741305488", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1741305488#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VILFFVQLFEKSEAPTIGNA", "down_seq": "PWKLLISSSTNVAVDRVLLG", "snv": [ { "evidence": [ { "id": "rs1741305488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1741305488" }, { "id": "rs1741305488", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1741305488#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAR->NAS).", "chr_id": "4", "chr_pos": "112558209", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1687", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.172.172", "start_pos": 172, "end_pos": 172, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748685642", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748685642", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748685642", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748685642", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748685642", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748685642", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SPFCSMPPLFPTVGKKDVNN", "down_seq": "LADPENIVTYKNRERNAMDF", "snv": [ { "evidence": [ { "id": "rs748685642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748685642" }, { "id": "rs748685642", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748685642" }, { "id": "rs748685642", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748685642" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNI->NNT).", "chr_id": "4", "chr_pos": "112619527", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I172", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q86YA3-1.163.163", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q86YA3-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q86YA3-1.190.190", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.179.179", "start_pos": 179, "end_pos": 179, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs564341520", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564341520", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs564341520", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs564341520", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs564341520", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564341520", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs564341520", "url": "https://www.ncbi.nlm.nih.gov/snp/rs564341520#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs564341520", "url": "http://gnomad.broadinstitute.org/awesome?query=rs564341520", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "PLFPTVGKKDVNNILADPEN", "down_seq": "VTYKNRERNAMDFSSVFSPS", "snv": [ { "evidence": [ { "id": "rs564341520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564341520" }, { "id": "rs564341520", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs564341520" }, { "id": "rs564341520", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564341520" }, { "id": "rs564341520", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs564341520#frequency_tab" }, { "id": "rs564341520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs564341520" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IVT->NVT).", "chr_id": "4", "chr_pos": "112619506", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "I179", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q86YA3-1.163.163", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q86YA3-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q86YA3-1.190.190", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.1809.1809", "start_pos": 1809, "end_pos": 1809, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs754508384", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754508384", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754508384", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754508384#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TCAACPFPCMNDLKFPVVVL", "down_seq": "ECSQITEPASLLPIARFECE", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" }, { "id": "rs754508384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754508384" }, { "id": "rs754508384", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754508384#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DEC->NEC).", "chr_id": "4", "chr_pos": "112548302", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1809", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.190.190", "start_pos": 190, "end_pos": 190, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1432626205", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1432626205", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1432626205", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1432626205", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "NNILADPENIVTYKNRERNA", "down_seq": "DFSSVFSPSFQINPEVLCEE", "snv": [ { "evidence": [ { "id": "rs1432626205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1432626205" }, { "id": "rs1432626205", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1432626205" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAM->NAT).", "chr_id": "4", "chr_pos": "112619473", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M190", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q86YA3-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q86YA3-1.179.179", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.213.213", "start_pos": 213, "end_pos": 213, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "SSVFSPSFQINPEVLCEENY", "down_seq": "CSPVNSGNKLSDSLLTNEPV", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NYF->NYC).", "chr_id": "4", "chr_pos": "112619404", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F213", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.27.27", "start_pos": 27, "end_pos": 27, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "IVLYTHQKMKKSKVWQDGIL", "down_seq": "ITHLGNKAILYDDKGACLES", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "4", "chr_pos": "112631951", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K27", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q86YA3-1.35.35", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764880026", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764880026", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764880026", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764880026", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764880026", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764880026#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764880026", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764880026", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs764880026", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764880026", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MKKSKVWQDGILKITHLGNK", "down_seq": "ILYDDKGACLESLFLKCLEV", "snv": [ { "evidence": [ { "id": "rs764880026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764880026" }, { "id": "rs764880026", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764880026" }, { "id": "rs764880026", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764880026#frequency_tab" }, { "id": "rs764880026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764880026" }, { "id": "rs764880026", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs764880026" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "4", "chr_pos": "112623876", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A35", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q86YA3-1.27.27", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.412.412", "start_pos": 412, "end_pos": 412, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GNNDPSWNQEVKLEIPSFNE", "down_seq": "SSLQVTCSSAENDGILSESD", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "4", "chr_pos": "112618807", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S412", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.444.444", "start_pos": 444, "end_pos": 444, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NDGILSESDIQEDNKIPFNQ", "down_seq": "DKGCIKGSVLIKENAQEVNT", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "4", "chr_pos": "112618711", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N444", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q86YA3-1.446.446", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q86YA3-1.450.450", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.446.446", "start_pos": 446, "end_pos": 446, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749686392", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749686392", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749686392", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749686392", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749686392", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749686392", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GILSESDIQEDNKIPFNQND", "down_seq": "GCIKGSVLIKENAQEVNTCG", "snv": [ { "evidence": [ { "id": "rs749686392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749686392" }, { "id": "rs749686392", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749686392" }, { "id": "rs749686392", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749686392" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGC->NGC).", "chr_id": "4", "chr_pos": "112618704", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K446", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q86YA3-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q86YA3-1.450.450", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.450.450", "start_pos": 450, "end_pos": 450, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1247837042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247837042", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1247837042", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1247837042#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1247837042", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1247837042", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ESDIQEDNKIPFNQNDKGCI", "down_seq": "GSVLIKENAQEVNTCGTLEK", "snv": [ { "evidence": [ { "id": "rs1247837042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247837042" }, { "id": "rs1247837042", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1247837042#frequency_tab" }, { "id": "rs1247837042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1247837042" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "4", "chr_pos": "112618692", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K450", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q86YA3-1.444.444", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q86YA3-1.446.446", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.537.537", "start_pos": 537, "end_pos": 537, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768817008", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768817008", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768817008", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768817008", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768817008", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768817008", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "HESLSNVTQPFLEVTFNLNN", "down_seq": "ETSDTEEESQESNKISQDSE", "snv": [ { "evidence": [ { "id": "rs768817008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768817008" }, { "id": "rs768817008", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768817008" }, { "id": "rs768817008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768817008" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNF->NNS).", "chr_id": "4", "chr_pos": "112618432", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F537", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.574.574", "start_pos": 574, "end_pos": 574, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QDSESWVKDILVNDGNSCFQ", "down_seq": "RSENTNCEEIEGEHLPFLTS", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "4", "chr_pos": "112618320", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K574", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.615.615", "start_pos": 615, "end_pos": 615, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1181044589", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181044589", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1181044589", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1181044589#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1181044589", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1181044589", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1181044589", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1181044589", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VSDKPTVTFPVKETLPSQFC", "down_seq": "KTYVGFDMGICKTENTGKEI", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" }, { "id": "rs1181044589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181044589" }, { "id": "rs1181044589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1181044589#frequency_tab" }, { "id": "rs1181044589", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1181044589" }, { "id": "rs1181044589", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1181044589" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "4", "chr_pos": "112618199", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D615", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.744.744", "start_pos": 744, "end_pos": 744, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750639270", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750639270", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750639270", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750639270", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750639270", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750639270#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750639270", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750639270", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DEHVLPSTSSSDNSVQLLNT", "down_seq": "QNHYECIALDKSNTHISNSL", "snv": [ { "evidence": [ { "id": "rs750639270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750639270" }, { "id": "rs750639270", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750639270" }, { "id": "rs750639270", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750639270#frequency_tab" }, { "id": "rs750639270", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750639270" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTN->NTS).", "chr_id": "4", "chr_pos": "112617811", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N744", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750639270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750639270" }, { "id": "rs750639270", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750639270" }, { "id": "rs750639270", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750639270#frequency_tab" }, { "id": "rs750639270", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750639270" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTN->NTT).", "chr_id": "4", "chr_pos": "112617811", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N744", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q86YA3-1.748.748", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.748.748", "start_pos": 748, "end_pos": 748, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768643960", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768643960", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768643960", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768643960", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768643960", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768643960", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LPSTSSSDNSVQLLNTNQNH", "down_seq": "ECIALDKSNTHISNSLFYPL", "snv": [ { "evidence": [ { "id": "rs768643960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768643960" }, { "id": "rs768643960", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768643960" }, { "id": "rs768643960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768643960" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHY->NHC).", "chr_id": "4", "chr_pos": "112617799", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y748", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q86YA3-1.744.744", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs371545389", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371545389", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371545389", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371545389", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs371545389", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371545389", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371545389", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371545389#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371545389", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371545389", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LITVEEVKVAGAIGIVKQNV", "down_seq": "KEAPELNSRTFISSGRSLGC", "snv": [ { "evidence": [ { "id": "rs371545389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371545389" }, { "id": "rs371545389", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371545389" }, { "id": "rs371545389", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371545389" }, { "id": "rs371545389", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371545389#frequency_tab" }, { "id": "rs371545389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371545389" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "4", "chr_pos": "112620093", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N87", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.975.975", "start_pos": 975, "end_pos": 975, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1750300373", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1750300373", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1750300373", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1750300373#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "GHSSQLGCSQFPDSTEYENF", "down_seq": "TETPELPSTCMQIDFLQVTS", "snv": [ { "evidence": [ { "id": "rs1750300373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1750300373" }, { "id": "rs1750300373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1750300373#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFM->NFT).", "chr_id": "4", "chr_pos": "112603576", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M975", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q86YA3-1.987.987", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.987.987", "start_pos": 987, "end_pos": 987, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "DSTEYENFMTETPELPSTCM", "down_seq": "IDFLQVTSPEENISTLSPVS", "snv": [ { "evidence": [ { "id": "Q86YA3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86YA3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "112603541", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q987", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q86YA3-1.975.975", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.336.336", "start_pos": 336, "end_pos": 336, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QSENTMRNKSRWAMYLSSQS", "down_seq": "PIHSSTVDGNDTERKPKAQE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "site_lbl": "Ser336" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86YA3-1.793.793", "start_pos": 793, "end_pos": 793, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" }, { "database": "iPTMnet", "id": "Q86YA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86YA3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86YA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86YA3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LISKDTEAHISEPEDLGKIR", "down_seq": "PPPDHVEVETAREGKQYWNP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q86YA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86YA3" } ], "site_lbl": "Ser793" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86YA3-1.864.864", "start_pos": 864, "end_pos": 864, "uniprot_canonical_ac": "Q86YA3-1", "length": 2104, "uniprot_id": "ZGRF1_HUMAN", "protein_name": "5'-3' DNA helicase ZGRF1", "refseq_ac": "NP_060862", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "gene_name": "ZGRF1", "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" }, { "database": "iPTMnet", "id": "Q86YA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86YA3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86YA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86YA3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ILKKKNTVFQQGTQQTYEPD", "down_seq": "PPEVRKPFITVVSPKSPHLH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86YA3", "url": "https://www.uniprot.org/uniprotkb/Q86YA3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q86YA3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86YA3" } ], "site_lbl": "Ser864" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1660", "end_pos": "1660" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1014", "end_pos": "1014" }, { "start_pos": "1022", "end_pos": "1022" }, { "start_pos": "1048", "end_pos": "1048" }, { "start_pos": "1062", "end_pos": "1062" }, { "start_pos": "1134", "end_pos": "1134" }, { "start_pos": "1140", "end_pos": "1140" }, { "start_pos": "1142", "end_pos": "1142" }, { "start_pos": "1158", "end_pos": "1158" }, { "start_pos": "1245", "end_pos": "1245" }, { "start_pos": "1299", "end_pos": "1299" }, { "start_pos": "1347", "end_pos": "1347" }, { "start_pos": "1368", "end_pos": "1368" }, { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "1390", "end_pos": "1390" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1467", "end_pos": "1467" }, { "start_pos": "1470", "end_pos": "1470" }, { "start_pos": "1494", "end_pos": "1494" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1576", "end_pos": "1576" }, { "start_pos": "1621", "end_pos": "1621" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "1687", "end_pos": "1687" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "444", "end_pos": "444" }, { "start_pos": "446", "end_pos": "446" }, { "start_pos": "450", "end_pos": "450" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "574", "end_pos": "574" }, { "start_pos": "615", "end_pos": "615" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "975", "end_pos": "975" }, { "start_pos": "987", "end_pos": "987" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "336", "end_pos": "336" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "864", "end_pos": "864" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60281-1.1086.1086", "start_pos": 1086, "end_pos": 1086, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs746306014", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746306014", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746306014", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746306014", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746306014", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746306014#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs746306014", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746306014", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs577917610", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577917610", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs577917610", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577917610", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs577917610", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577917610", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs577917610", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577917610#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs577917610", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577917610", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KTLESIAFVPPQSDLSNSLG", "down_seq": "PSVPPKAPVQKFSCQVEGCT", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1086", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs746306014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746306014" }, { "id": "rs746306014", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746306014" }, { "id": "rs746306014", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746306014#frequency_tab" }, { "id": "rs746306014", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746306014" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "87256885", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1086", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" }, { "id": "rs577917610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577917610" }, { "id": "rs577917610", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577917610" }, { "id": "rs577917610", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577917610" }, { "id": "rs577917610", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs577917610#frequency_tab" }, { "id": "rs577917610", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs577917610" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "87256886", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1086", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "O60281-1.1079.1079", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "O60281-1.1081.1081", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1777.1777", "start_pos": 1777, "end_pos": 1777, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" }, { "database": "O-GlcNAc Atlas", "id": "O60281", "url": "https://oglcnac.org/atlas/detail/O60281" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "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": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" }, { "database": "O-GlcNAc Atlas", "id": "O60281", "url": "https://oglcnac.org/atlas/detail/O60281" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://oglcnac.org/atlas/detail/O60281", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs41273279", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41273279", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs41273279", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41273279", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs41273279", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41273279", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs41273279", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41273279#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs41273279", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41273279", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1582526132", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582526132", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1582526132", "url": "https://www.ensembl.org/id/rs1582526132", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KTLEIIKTAMNSQILEVKSG", "down_seq": "QGAGETSQNAQINYNIQLPS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1777", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "O60281", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "O60281", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60281" } ] } ], "snv": [ { "evidence": [ { "id": "rs41273279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41273279" }, { "id": "rs41273279", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41273279" }, { "id": "rs41273279", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41273279" }, { "id": "rs41273279", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41273279#frequency_tab" }, { "id": "rs41273279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41273279" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "6", "chr_pos": "87258959", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1777", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs41273279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41273279" }, { "id": "rs41273279", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs41273279" }, { "id": "rs41273279", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41273279" }, { "id": "rs41273279", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs41273279#frequency_tab" }, { "id": "rs41273279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs41273279" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "6", "chr_pos": "87258959", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1777", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582526132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582526132" }, { "id": "rs1582526132", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582526132" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "6", "chr_pos": "87258958", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1777", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "6", "chr_pos": "87258959", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1777", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "O60281-1.1792.1792", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 3 } ], "sort_fields": [ "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60281-1.1872.1872", "start_pos": 1872, "end_pos": 1872, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1209095419", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209095419", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1209095419", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209095419", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs377066214", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377066214", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377066214", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377066214", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377066214", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377066214#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377066214", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377066214", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DLSTPASQCVLINTSVTLTP", "down_seq": "PVKSTADITVIQPVSEMINI", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1872", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "87259243", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T1872", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1209095419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209095419" }, { "id": "rs1209095419", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209095419" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "87259259", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377066214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377066214" }, { "id": "rs377066214", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377066214" }, { "id": "rs377066214", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377066214#frequency_tab" }, { "id": "rs377066214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377066214" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "6", "chr_pos": "87259244", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377066214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377066214" }, { "id": "rs377066214", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377066214" }, { "id": "rs377066214", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377066214#frequency_tab" }, { "id": "rs377066214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377066214" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "6", "chr_pos": "87259244", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1872", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.370.370", "start_pos": 370, "end_pos": 370, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" }, { "database": "O-GlcNAc Atlas", "id": "O60281", "url": "https://oglcnac.org/atlas/detail/O60281" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "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": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" }, { "database": "O-GlcNAc Atlas", "id": "O60281", "url": "https://oglcnac.org/atlas/detail/O60281" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://oglcnac.org/atlas/detail/O60281", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs763932063", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763932063", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763932063", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763932063#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763932063", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763932063", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IELCVKALRLESTENTEVKI", "down_seq": "ICKTISCLLPDDLEVKRACQ", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser370", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "O60281", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "O60281", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60281" } ] } ], "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "6", "chr_pos": "87254738", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S370", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs763932063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763932063" }, { "id": "rs763932063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763932063#frequency_tab" }, { "id": "rs763932063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763932063" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "6", "chr_pos": "87254737", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S370", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "6", "chr_pos": "87254738", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S370", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "O60281-1.374.374", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60281-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" }, { "database": "O-GlcNAc Atlas", "id": "O60281", "url": "https://oglcnac.org/atlas/detail/O60281" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "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": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" }, { "database": "O-GlcNAc Atlas", "id": "O60281", "url": "https://oglcnac.org/atlas/detail/O60281" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://oglcnac.org/atlas/detail/O60281", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1424628136", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424628136", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1424628136", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1424628136#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1424628136", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424628136", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VKALRLESTENTEVKISICK", "down_seq": "ISCLLPDDLEVKRACQLSEF", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr374", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "O60281", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60281" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "O60281", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60281" } ] } ], "snv": [ { "evidence": [ { "id": "rs1424628136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424628136" }, { "id": "rs1424628136", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1424628136#frequency_tab" }, { "id": "rs1424628136", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424628136" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "87254750", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T374", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "O60281-1.370.370", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60281-1.862.862", "start_pos": 862, "end_pos": 862, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EAQLNSSGDSIQPSEVNQNT", "down_seq": "ENIEKERSMLPSENNIENSL", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (NTA->NTS).", "chr_id": "6", "chr_pos": "87256213", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A862", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "O60281-1.874.874", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60281-1.878.878", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1005.1005", "start_pos": 1005, "end_pos": 1005, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1194108487", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194108487", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1194108487", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194108487", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GFQERKEQDCFNDAHVTQNS", "down_seq": "VNSETLKIGDLTPQNLERQV", "snv": [ { "evidence": [ { "id": "rs1194108487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194108487" }, { "id": "rs1194108487", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194108487" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSL->NSS).", "chr_id": "6", "chr_pos": "87256643", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1005", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "O60281-1.1015.1015", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.100.100", "start_pos": 100, "end_pos": 100, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750298330", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750298330", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750298330", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750298330#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750298330", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750298330", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VAIQSYVKARPYLTSECENV", "down_seq": "LVLERLALSCVELLLCLPVE", "snv": [ { "evidence": [ { "id": "rs750298330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750298330" }, { "id": "rs750298330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750298330#frequency_tab" }, { "id": "rs750298330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750298330" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "6", "chr_pos": "87216032", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750298330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750298330" }, { "id": "rs750298330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750298330#frequency_tab" }, { "id": "rs750298330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750298330" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "6", "chr_pos": "87216032", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A100", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1015.1015", "start_pos": 1015, "end_pos": 1015, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs188290220", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188290220", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs188290220", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188290220", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs188290220", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188290220", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs188290220", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188290220#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs188290220", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188290220", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FNDAHVTQNSLVNSETLKIG", "down_seq": "LTPQNLERQVNNLMTFSVQN", "snv": [ { "evidence": [ { "id": "rs188290220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188290220" }, { "id": "rs188290220", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188290220" }, { "id": "rs188290220", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188290220" }, { "id": "rs188290220", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188290220#frequency_tab" }, { "id": "rs188290220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188290220" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "6", "chr_pos": "87256672", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D1015", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60281-1.1005.1005", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60281-1.1030.1030", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1030.1030", "start_pos": 1030, "end_pos": 1030, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs372847531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372847531", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372847531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372847531", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372847531", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372847531#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372847531", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372847531", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TLKIGDLTPQNLERQVNNLM", "down_seq": "FSVQNQAAFQNNLPTSKFEC", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87256718", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1030", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs372847531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372847531" }, { "id": "rs372847531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372847531" }, { "id": "rs372847531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372847531#frequency_tab" }, { "id": "rs372847531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372847531" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "6", "chr_pos": "87256718", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1030", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O60281-1.1015.1015", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "O60281-1.1044.1044", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1044.1044", "start_pos": 1044, "end_pos": 1044, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QVNNLMTFSVQNQAAFQNNL", "down_seq": "TSKFECGDNVKTSSNLYNLP", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "6", "chr_pos": "87256759", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1044", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "O60281-1.1030.1030", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60281-1.1061.1061", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60281-1.1064.1064", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1061.1061", "start_pos": 1061, "end_pos": 1061, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775246264", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775246264", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775246264", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775246264#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "NNLPTSKFECGDNVKTSSNL", "down_seq": "NLPLKTLESIAFVPPQSDLS", "snv": [ { "evidence": [ { "id": "rs1775246264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775246264" }, { "id": "rs1775246264", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775246264#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLY->NLC).", "chr_id": "6", "chr_pos": "87256811", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1061", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "O60281-1.1044.1044", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "O60281-1.1064.1064", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60281-1.1079.1079", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60281-1.1081.1081", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1064.1064", "start_pos": 1064, "end_pos": 1064, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201859341", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201859341", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201859341", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201859341", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201859341", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201859341#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201859341", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201859341", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs201859341", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201859341", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PTSKFECGDNVKTSSNLYNL", "down_seq": "LKTLESIAFVPPQSDLSNSL", "snv": [ { "evidence": [ { "id": "rs201859341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201859341" }, { "id": "rs201859341", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201859341" }, { "id": "rs201859341", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201859341#frequency_tab" }, { "id": "rs201859341", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201859341" }, { "id": "rs201859341", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201859341" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "6", "chr_pos": "87256819", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1064", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60281-1.1044.1044", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "O60281-1.1061.1061", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60281-1.1079.1079", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "O60281-1.1081.1081", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1079.1079", "start_pos": 1079, "end_pos": 1079, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs377156350", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377156350", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377156350", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377156350", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs377156350", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377156350", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377156350", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377156350#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377156350", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377156350", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NLYNLPLKTLESIAFVPPQS", "down_seq": "LSNSLGTPSVPPKAPVQKFS", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" }, { "id": "rs377156350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377156350" }, { "id": "rs377156350", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs377156350" }, { "id": "rs377156350", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377156350" }, { "id": "rs377156350", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377156350#frequency_tab" }, { "id": "rs377156350", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377156350" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "6", "chr_pos": "87256864", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1079", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60281-1.1061.1061", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "O60281-1.1064.1064", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60281-1.1081.1081", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60281-1.1086.1086", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1081.1081", "start_pos": 1081, "end_pos": 1081, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2127862468", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127862468", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2127862468", "url": "https://www.ensembl.org/id/rs2127862468", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YNLPLKTLESIAFVPPQSDL", "down_seq": "NSLGTPSVPPKAPVQKFSCQ", "snv": [ { "evidence": [ { "id": "rs2127862468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127862468" }, { "id": "rs2127862468", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127862468" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "6", "chr_pos": "87256871", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1081", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60281-1.1061.1061", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "O60281-1.1064.1064", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "O60281-1.1079.1079", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60281-1.1086.1086", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1107.1107", "start_pos": 1107, "end_pos": 1107, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PSVPPKAPVQKFSCQVEGCT", "down_seq": "TYNSSQSIGKHMKTAHPDQY", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87256948", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1107", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1146.1146", "start_pos": 1146, "end_pos": 1146, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746174390", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746174390", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746174390", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746174390", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746174390", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746174390#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs746174390", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746174390", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QYAAFKMQRKSKKGQKANNL", "down_seq": "TPNNGKFVYFLPSPVNSSNP", "snv": [ { "evidence": [ { "id": "rs746174390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746174390" }, { "id": "rs746174390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746174390" }, { "id": "rs746174390", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746174390#frequency_tab" }, { "id": "rs746174390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746174390" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "6", "chr_pos": "87257066", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1146", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "O60281-1.1148.1148", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "O60281-1.1159.1159", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1148.1148", "start_pos": 1148, "end_pos": 1148, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780324757", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780324757", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780324757", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780324757", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780324757", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780324757", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "AAFKMQRKSKKGQKANNLNT", "down_seq": "NNGKFVYFLPSPVNSSNPFF", "snv": [ { "evidence": [ { "id": "rs780324757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780324757" }, { "id": "rs780324757", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780324757" }, { "id": "rs780324757", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780324757" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "6", "chr_pos": "87257071", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780324757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780324757" }, { "id": "rs780324757", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780324757" }, { "id": "rs780324757", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780324757" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTT).", "chr_id": "6", "chr_pos": "87257071", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1148", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60281-1.1146.1146", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60281-1.1159.1159", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1198.1198", "start_pos": 1198, "end_pos": 1198, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768253185", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768253185", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768253185", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768253185", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768253185", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768253185#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs768253185", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768253185", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PACSAQLQHVSPPIFPAHLA", "down_seq": "VSTPLLSSMESVINPNITSQ", "snv": [ { "evidence": [ { "id": "rs768253185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768253185" }, { "id": "rs768253185", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768253185" }, { "id": "rs768253185", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768253185#frequency_tab" }, { "id": "rs768253185", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768253185" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "6", "chr_pos": "87257222", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1198", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1235.1235", "start_pos": 1235, "end_pos": 1235, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766943115", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766943115", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766943115", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766943115", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766943115", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766943115", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1582520236", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582520236", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1582520236", "url": "https://www.ensembl.org/id/rs1582520236", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ITSQDKNEQGGMLCSQMENL", "down_seq": "STALPAQMEDLTKTVLPLNI", "snv": [ { "evidence": [ { "id": "rs766943115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766943115" }, { "id": "rs766943115", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766943115" }, { "id": "rs766943115", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766943115" }, { "id": "rs1582520236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582520236" }, { "id": "rs1582520236", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582520236" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "6", "chr_pos": "87257347", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1235", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1257.1257", "start_pos": 1257, "end_pos": 1257, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs370589339", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370589339", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs370589339", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370589339", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs370589339", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370589339", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TALPAQMEDLTKTVLPLNID", "down_seq": "GSDPFLPLPAESSSMSLFPS", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" }, { "id": "rs370589339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370589339" }, { "id": "rs370589339", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370589339" }, { "id": "rs370589339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370589339" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "6", "chr_pos": "87257399", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1257", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "O60281-1.1269.1269", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1269.1269", "start_pos": 1269, "end_pos": 1269, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775289452", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775289452", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775289452", "url": "https://www.ensembl.org/id/rs1775289452", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TVLPLNIDSGSDPFLPLPAE", "down_seq": "SSMSLFPSPADSGTNSVFSQ", "snv": [ { "evidence": [ { "id": "rs1775289452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775289452" }, { "id": "rs1775289452", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775289452" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "6", "chr_pos": "87257435", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1269", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O60281-1.1257.1257", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1306.1306", "start_pos": 1306, "end_pos": 1306, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1476225716", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476225716", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1476225716", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1476225716", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VFSQLENNTNHYSSQIEGNT", "down_seq": "SSFLKGGNGENAVFPSQVNV", "snv": [ { "evidence": [ { "id": "rs1476225716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476225716" }, { "id": "rs1476225716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1476225716" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTN->NTS).", "chr_id": "6", "chr_pos": "87257546", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1306", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1349.1349", "start_pos": 1349, "end_pos": 1349, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NFSSTNAQQSAPEKVKKDRG", "down_seq": "GPNGKERKPKHNKRAKWPAI", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87257674", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1349", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1397.1397", "start_pos": 1397, "end_pos": 1397, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CSRCYRAFTNPRSLGGHLSK", "down_seq": "SYCKPLDGAEIAQELLQSNG", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "87257818", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1397", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87257819", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1397", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1461.1461", "start_pos": 1461, "end_pos": 1461, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TFNPEACFKDPSFLQLLAEN", "down_seq": "SPAFLPNTFPRSGVTNFNTS", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87258010", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1461", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "O60281-1.1476.1476", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1476.1476", "start_pos": 1476, "end_pos": 1476, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LLAENRSPAFLPNTFPRSGV", "down_seq": "NFNTSVSQEGSEIIKQALET", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "6", "chr_pos": "87258056", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1476", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O60281-1.1461.1461", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1507.1507", "start_pos": 1507, "end_pos": 1507, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SEIIKQALETAGIPSTFEGA", "down_seq": "MLSHVSTGCVSDASQVNATV", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87258148", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E1507", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "O60281-1.1526.1526", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1526.1526", "start_pos": 1526, "end_pos": 1526, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AEMLSHVSTGCVSDASQVNA", "down_seq": "VMPNPTVPPLLHTVCHPNTL", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87258206", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1526", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60281-1.1507.1507", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60281-1.1531.1531", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1531.1531", "start_pos": 1531, "end_pos": 1531, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs776150989", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776150989", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs776150989", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776150989", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs776150989", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776150989", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs776150989", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs776150989", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "HVSTGCVSDASQVNATVMPN", "down_seq": "TVPPLLHTVCHPNTLLTNQN", "snv": [ { "evidence": [ { "id": "rs776150989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776150989" }, { "id": "rs776150989", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776150989" }, { "id": "rs776150989", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776150989" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NAT).", "chr_id": "6", "chr_pos": "87258220", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" }, { "id": "rs776150989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776150989" }, { "id": "rs776150989", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776150989" }, { "id": "rs776150989", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776150989" }, { "id": "rs776150989", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs776150989" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPT->NST).", "chr_id": "6", "chr_pos": "87258220", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1531", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "O60281-1.1526.1526", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1557.1557", "start_pos": 1557, "end_pos": 1557, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LHTVCHPNTLLTNQNRTSNS", "down_seq": "TSSIEECSSLPVFPTNDLLL", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "6", "chr_pos": "87258300", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K1557", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "O60281-1.1575.1575", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1575.1575", "start_pos": 1575, "end_pos": 1575, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs11753862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11753862", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs11753862", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs11753862", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs11753862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11753862", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs11753862", "url": "https://www.ncbi.nlm.nih.gov/snp/rs11753862#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs11753862", "url": "http://gnomad.broadinstitute.org/awesome?query=rs11753862", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs11753862", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs11753862", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "NSKTSSIEECSSLPVFPTND", "down_seq": "LLKTVENGLCSSSFPNSGGP", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" }, { "id": "rs11753862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11753862" }, { "id": "rs11753862", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs11753862" }, { "id": "rs11753862", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11753862" }, { "id": "rs11753862", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs11753862#frequency_tab" }, { "id": "rs11753862", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs11753862" }, { "id": "rs11753862", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs11753862" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDL->NDS).", "chr_id": "6", "chr_pos": "87258353", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L1575", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60281-1.1557.1557", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1601.1601", "start_pos": 1601, "end_pos": 1601, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1185792718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185792718", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1185792718", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1185792718", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ENGLCSSSFPNSGGPSQNFT", "down_seq": "NSSRVSVISGPQNTRSSHLN", "snv": [ { "evidence": [ { "id": "rs1185792718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185792718" }, { "id": "rs1185792718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1185792718" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "6", "chr_pos": "87258431", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1601", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1626.1626", "start_pos": 1626, "end_pos": 1626, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs761915004", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761915004", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761915004", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761915004", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761915004", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761915004#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs761915004", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761915004", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VSVISGPQNTRSSHLNKKGN", "down_seq": "ASKRRKKVAPPLIAPNASQN", "snv": [ { "evidence": [ { "id": "rs761915004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761915004" }, { "id": "rs761915004", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761915004" }, { "id": "rs761915004", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761915004#frequency_tab" }, { "id": "rs761915004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761915004" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "6", "chr_pos": "87258506", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1626", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "O60281-1.1627.1627", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "O60281-1.1628.1628", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1627.1627", "start_pos": 1627, "end_pos": 1627, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1775366806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775366806", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775366806", "url": "https://www.ensembl.org/id/rs1775366806", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SVISGPQNTRSSHLNKKGNS", "down_seq": "SKRRKKVAPPLIAPNASQNL", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSA->NSS).", "chr_id": "6", "chr_pos": "87258508", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1627", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1775366806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775366806" }, { "id": "rs1775366806", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775366806" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "6", "chr_pos": "87258508", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1627", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "O60281-1.1626.1626", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60281-1.1628.1628", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1674.1674", "start_pos": 1674, "end_pos": 1674, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775380354", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775380354", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775380354", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775380354#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TMGLIAKSVEIPTTNLHSNV", "down_seq": "PTCEPQSLVENLTQKLNNVN", "snv": [ { "evidence": [ { "id": "rs1775380354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775380354" }, { "id": "rs1775380354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775380354#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVI->NVT).", "chr_id": "6", "chr_pos": "87258650", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1674", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "O60281-1.1694.1694", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1694.1694", "start_pos": 1694, "end_pos": 1694, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767316037", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767316037", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767316037", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767316037", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767316037", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767316037", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IPTCEPQSLVENLTQKLNNV", "down_seq": "NQLFMTDVKENFKTSLESHT", "snv": [ { "evidence": [ { "id": "rs767316037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767316037" }, { "id": "rs767316037", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767316037" }, { "id": "rs767316037", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767316037" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "6", "chr_pos": "87258710", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1694", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60281-1.1674.1674", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1752.1752", "start_pos": 1752, "end_pos": 1752, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774222720", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774222720", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774222720", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774222720", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774222720", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774222720#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774222720", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774222720", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ALNSCTTSINSDLQISEDNV", "down_seq": "QNFEKTLEIIKTAMNSQILE", "snv": [ { "evidence": [ { "id": "rs774222720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774222720" }, { "id": "rs774222720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774222720" }, { "id": "rs774222720", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774222720#frequency_tab" }, { "id": "rs774222720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774222720" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVI->NVT).", "chr_id": "6", "chr_pos": "87258884", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1752", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1792.1792", "start_pos": 1792, "end_pos": 1792, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1193894369", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193894369", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1193894369", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193894369", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EVKSGSQGAGETSQNAQINY", "down_seq": "IQLPSVNTVQNNKLPDSSPF", "snv": [ { "evidence": [ { "id": "rs1193894369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193894369" }, { "id": "rs1193894369", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193894369" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYN->NYS).", "chr_id": "6", "chr_pos": "87259004", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1792", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O60281-1.1777.1777", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "O60281-1.1808.1808", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1808.1808", "start_pos": 1808, "end_pos": 1808, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs556893194", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556893194", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs556893194", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556893194", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs556893194", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556893194", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs556893194", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556893194#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs556893194", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556893194", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QINYNIQLPSVNTVQNNKLP", "down_seq": "SSPFSSFISVMPTKSNIPQS", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" }, { "id": "rs556893194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556893194" }, { "id": "rs556893194", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556893194" }, { "id": "rs556893194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556893194" }, { "id": "rs556893194", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556893194#frequency_tab" }, { "id": "rs556893194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556893194" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "6", "chr_pos": "87259051", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1808", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60281-1.1792.1792", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1908.1908", "start_pos": 1908, "end_pos": 1908, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "EMINIQFNDKVNKPFVCQNQ", "down_seq": "CNYSAMTKDALFKHYGKIHQ", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NQG->NQC).", "chr_id": "6", "chr_pos": "87259351", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1908", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1998.1998", "start_pos": 1998, "end_pos": 1998, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs868603916", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868603916", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs868603916", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868603916#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "EMVKLKIKRPYGRKSQSENV", "down_seq": "ASRSTQVKKQLAMTEENKKE", "snv": [ { "evidence": [ { "id": "rs868603916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868603916" }, { "id": "rs868603916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs868603916#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "6", "chr_pos": "87259621", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1998", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "O60281-1.2017.2017", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2017.2017", "start_pos": 2017, "end_pos": 2017, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VPASRSTQVKKQLAMTEENK", "down_seq": "ESQPALELRAETQNTHSNVA", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "6", "chr_pos": "87259680", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K2017", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60281-1.1998.1998", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2051.2051", "start_pos": 2051, "end_pos": 2051, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1455045545", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455045545", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1455045545", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1455045545", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NTHSNVAVIPEKQLVEKKSP", "down_seq": "KTESSLQVITVTSEQCNTNA", "snv": [ { "evidence": [ { "id": "rs1455045545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455045545" }, { "id": "rs1455045545", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1455045545" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "6", "chr_pos": "87259780", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2051", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "O60281-1.2070.2070", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2070.2070", "start_pos": 2070, "end_pos": 2070, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PDKTESSLQVITVTSEQCNT", "down_seq": "ALTNTQTKGRKIRRHKKEKE", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTN->NTS).", "chr_id": "6", "chr_pos": "87259838", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N2070", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60281-1.2051.2051", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2115.2115", "start_pos": 2115, "end_pos": 2115, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KKPVSQSLEFPTRYSPYRPY", "down_seq": "CVHQGCFAAFTIQQNLILHY", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "6", "chr_pos": "87259972", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2115", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.213.213", "start_pos": 213, "end_pos": 213, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DMRIKHLIKTNQLSQATALA", "down_seq": "LCSDHPEIGIKGSFKQTYLV", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KLC->NLC).", "chr_id": "6", "chr_pos": "87233425", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K213", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2173.2173", "start_pos": 2173, "end_pos": 2173, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ESEAGKESEETETKQTLKEF", "down_seq": "CQVSDCSRIFQAITGLIQHY", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "6", "chr_pos": "87260146", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2173", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "O60281-1.2177.2177", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "O60281-1.2178.2178", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2177.2177", "start_pos": 2177, "end_pos": 2177, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs373090421", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373090421", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373090421", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373090421", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs373090421", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373090421#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs373090421", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373090421", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GKESEETETKQTLKEFRCQV", "down_seq": "DCSRIFQAITGLIQHYMKLH", "snv": [ { "evidence": [ { "id": "rs373090421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373090421" }, { "id": "rs373090421", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373090421" }, { "id": "rs373090421", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373090421#frequency_tab" }, { "id": "rs373090421", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373090421" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDC->NDC).", "chr_id": "6", "chr_pos": "87260159", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2177", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "O60281-1.2173.2173", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60281-1.2178.2178", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2178.2178", "start_pos": 2178, "end_pos": 2178, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs781557180", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781557180", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781557180", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781557180", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781557180", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781557180", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KESEETETKQTLKEFRCQVS", "down_seq": "CSRIFQAITGLIQHYMKLHE", "snv": [ { "evidence": [ { "id": "rs781557180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781557180" }, { "id": "rs781557180", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781557180" }, { "id": "rs781557180", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781557180" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DCS->NCS).", "chr_id": "6", "chr_pos": "87260161", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2178", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "O60281-1.2173.2173", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60281-1.2177.2177", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2199.2199", "start_pos": 2199, "end_pos": 2199, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "CSRIFQAITGLIQHYMKLHE", "down_seq": "TPEEIESMTASVDVGKFPCD", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87260226", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M2199", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "O60281-1.2209.2209", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2209.2209", "start_pos": 2209, "end_pos": 2209, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LIQHYMKLHEMTPEEIESMT", "down_seq": "SVDVGKFPCDQLECKSSFTT", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87260255", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A2209", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "O60281-1.2199.2199", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60281-1.2224.2224", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2224.2224", "start_pos": 2224, "end_pos": 2224, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201167963", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201167963", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201167963", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201167963", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201167963", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201167963#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201167963", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201167963", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "IESMTASVDVGKFPCDQLEC", "down_seq": "SSFTTYLNYVVHLEADHGIG", "snv": [ { "evidence": [ { "id": "rs201167963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201167963" }, { "id": "rs201167963", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201167963" }, { "id": "rs201167963", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201167963#frequency_tab" }, { "id": "rs201167963", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201167963" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "6", "chr_pos": "87260301", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2224", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O60281-1.2209.2209", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "O60281-1.2242.2242", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2242.2242", "start_pos": 2242, "end_pos": 2242, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "ECKSSFTTYLNYVVHLEADH", "down_seq": "IGLRASKTEEDGVYKCDCEG", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87260354", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G2242", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60281-1.2224.2224", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2321.2321", "start_pos": 2321, "end_pos": 2321, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753810681", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753810681", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753810681", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753810681", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753810681", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753810681", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NMSSKANQEKSKSKHRGTKH", "down_seq": "RCGKEGIKMPKTKRKKKNNL", "snv": [ { "evidence": [ { "id": "rs753810681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753810681" }, { "id": "rs753810681", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753810681" }, { "id": "rs753810681", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753810681" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRC->NRC).", "chr_id": "6", "chr_pos": "87260591", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2321", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "O60281-1.2341.2341", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2341.2341", "start_pos": 2341, "end_pos": 2341, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775524608", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775524608", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775524608", "url": "https://www.ensembl.org/id/rs1775524608", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SRCGKEGIKMPKTKRKKKNN", "down_seq": "ENKNAKIVQIEENKPYSLKR", "snv": [ { "evidence": [ { "id": "rs1775524608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775524608" }, { "id": "rs1775524608", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775524608" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNL->NNS).", "chr_id": "6", "chr_pos": "87260651", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L2341", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60281-1.2321.2321", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "O60281-1.2356.2356", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2356.2356", "start_pos": 2356, "end_pos": 2356, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1418701781", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418701781", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1418701781", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1418701781", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KKKNNLENKNAKIVQIEENK", "down_seq": "YSLKRGKHVYSIKARNDALS", "snv": [ { "evidence": [ { "id": "rs1418701781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418701781" }, { "id": "rs1418701781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1418701781" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "6", "chr_pos": "87260695", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2356", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O60281-1.2341.2341", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2429.2429", "start_pos": 2429, "end_pos": 2429, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CHKLSKAFTSQHRNLLIVFK", "down_seq": "CCNSQVKETSEQEGAKNDVK", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "87260914", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2429", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2544.2544", "start_pos": 2544, "end_pos": 2544, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766901551", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766901551", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766901551", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766901551", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766901551", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766901551#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766901551", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766901551", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RQKASNLKRVNKEKNVSQNK", "down_seq": "RKVEKAEPASAAELSSVRKE", "snv": [ { "evidence": [ { "id": "rs766901551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766901551" }, { "id": "rs766901551", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766901551" }, { "id": "rs766901551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766901551#frequency_tab" }, { "id": "rs766901551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766901551" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKK->NKT).", "chr_id": "6", "chr_pos": "87261275", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2544", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "O60281-1.2562.2562", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2562.2562", "start_pos": 2562, "end_pos": 2562, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NKKRKVEKAEPASAAELSSV", "down_seq": "KEEETAVAIQTIEEHPASFD", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "87261313", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2562", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60281-1.2544.2544", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "O60281-1.2582.2582", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2582.2582", "start_pos": 2582, "end_pos": 2582, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775587806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775587806", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775587806", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775587806#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RKEEETAVAIQTIEEHPASF", "down_seq": "WSSFKPMGFEVSFLKFLEES", "snv": [ { "evidence": [ { "id": "rs1775587806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775587806" }, { "id": "rs1775587806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775587806#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DWS->NWS).", "chr_id": "6", "chr_pos": "87261373", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2582", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "O60281-1.2562.2562", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2657.2657", "start_pos": 2657, "end_pos": 2657, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1366703109", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366703109", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1366703109", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366703109", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TSGNHVCPCKESETFVQFAN", "down_seq": "SQLQCSDNVKIVLDKNLKDC", "snv": [ { "evidence": [ { "id": "rs1366703109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366703109" }, { "id": "rs1366703109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366703109" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "6", "chr_pos": "87261599", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2657", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "6", "chr_pos": "87261598", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P2657", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "O60281-1.2675.2675", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "O60281-1.2676.2676", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2675.2675", "start_pos": 2675, "end_pos": 2675, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1447905439", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447905439", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1447905439", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447905439", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs769138506", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769138506", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769138506", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769138506", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769138506", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769138506", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ANPSQLQCSDNVKIVLDKNL", "down_seq": "DCTELVLKQLQEMKPTVSLK", "snv": [ { "evidence": [ { "id": "rs1447905439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447905439" }, { "id": "rs1447905439", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447905439" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KDC->NDC).", "chr_id": "6", "chr_pos": "87261654", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2675", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769138506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769138506" }, { "id": "rs769138506", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769138506" }, { "id": "rs769138506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769138506" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLK->NLT).", "chr_id": "6", "chr_pos": "87261653", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2675", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "O60281-1.2657.2657", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "O60281-1.2676.2676", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2676.2676", "start_pos": 2676, "end_pos": 2676, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs556062202", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556062202", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs556062202", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556062202", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs556062202", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556062202", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs556062202", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556062202#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs556062202", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556062202", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs556062202", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556062202", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NPSQLQCSDNVKIVLDKNLK", "down_seq": "CTELVLKQLQEMKPTVSLKK", "snv": [ { "evidence": [ { "id": "rs556062202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556062202" }, { "id": "rs556062202", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556062202" }, { "id": "rs556062202", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556062202" }, { "id": "rs556062202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556062202#frequency_tab" }, { "id": "rs556062202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556062202" }, { "id": "rs556062202", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556062202" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DCT->NCT).", "chr_id": "6", "chr_pos": "87261655", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2676", "disease": [ { "disease_id": "DOID:12849", "recommended_name": { "id": "DOID:12849", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years." }, "synonyms": [ { "id": "DOID:12849", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12849", "name": "Kanner's syndrome", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12849", "name": "autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12849", "name": "autistic disorder of childhood onset", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12849", "name": "childhood autism", "description": "" }, { "id": "DOID:12849", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12849", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism spectrum disorder", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "Kanner's syndrome", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism (disease)", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "infantile autism", "description": "" }, { "id": "MONDO:0005260", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005260", "name": "autism, susceptiblity to", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ] }, { "disease_id": "DOID:0061037", "recommended_name": { "id": "DOID:0061037", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0061037", "name": "autosomal dominant intellectual developmental disorder 64", "description": "An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14." }, "synonyms": [ { "id": "MONDO:0030934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030934", "name": "intellectual developmental disorder, autosomal dominant 64", "description": "" }, { "id": "MONDO:0030934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030934", "name": "ZNF292-related syndrome", "description": "" }, { "id": "MONDO:0030934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030934", "name": "MRD64", "description": "" }, { "id": "MONDO:0030934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030934", "name": "ZNF292-related neurodevelopmental disorder", "description": "" }, { "id": "MONDO:0030934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030934", "name": "intellectual developmental disorder, autosomal dominant 64", "description": "" }, { "id": "MONDO:0030934", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030934", "name": "mental retardation, autosomal dominant 64", "description": "" }, { "id": "MIM:619188", "resource": "MIM", "url": "https://www.omim.org/entry/619188", "name": "Intellectual developmental disorder, autosomal dominant 64", "description": "Intellectual developmental disorder, autosomal dominant 64" } ], "unlinked_id_list": [], "evidence": [ { "id": "619188", "database": "MIM", "url": "https://www.omim.org/entry/619188" }, { "id": "0061037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061037" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "O60281-1.2657.2657", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60281-1.2675.2675", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2704.2704", "start_pos": 2704, "end_pos": 2704, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2127878184", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127878184", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2127878184", "url": "https://www.ensembl.org/id/rs2127878184", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QLQEMKPTVSLKKLEVHSND", "down_seq": "DMSVMKDISIGKATGRGQY", "snv": [ { "evidence": [ { "id": "rs2127878184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2127878184" }, { "id": "rs2127878184", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2127878184" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDP->NDT).", "chr_id": "6", "chr_pos": "87261739", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P2704", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "O60281-1.2716.2716", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.2716.2716", "start_pos": 2716, "end_pos": 2716, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KLEVHSNDPDMSVMKDISIG", "down_seq": "ATGRGQY", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "6", "chr_pos": "87261777", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K2716", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O60281-1.2704.2704", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DCKDALEMICNLESEGDEKS", "down_seq": "LVLCTAFLSRQLQQGDMYCA", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87243547", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A272", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "O60281-1.271.271", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.402.402", "start_pos": 402, "end_pos": 402, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DLEVKRACQLSEFLIEPTVD", "down_seq": "YYAVEMLYNQPDQKYDEENL", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "87254834", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A402", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.429.429", "start_pos": 429, "end_pos": 429, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LYNQPDQKYDEENLPIPNSL", "down_seq": "CELLLVLKTQWPFDPEFWDW", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "87254915", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R429", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767566109", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767566109", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767566109", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767566109", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767566109", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767566109", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FWDWKTLKRQCLALMGEEAS", "down_seq": "VSSIDELNDSEVYEKVVDYQ", "snv": [ { "evidence": [ { "id": "rs767566109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767566109" }, { "id": "rs767566109", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767566109" }, { "id": "rs767566109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767566109" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IVS->NVS).", "chr_id": "6", "chr_pos": "87255026", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I466", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1230608920", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230608920", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1230608920", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230608920#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1230608920", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230608920", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LQELELQLRESRVPAVEAAT", "down_seq": "YCQQLCQTLLEYAEKWKTSE", "snv": [ { "evidence": [ { "id": "rs1230608920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230608920" }, { "id": "rs1230608920", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230608920#frequency_tab" }, { "id": "rs1230608920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230608920" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DYC->NYC).", "chr_id": "6", "chr_pos": "87155736", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D49", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.506.506", "start_pos": 506, "end_pos": 506, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "QEESKETSMNGLSGGVGANS", "down_seq": "LLKDIGDEKQKKREIKQLRE", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSG->NSC).", "chr_id": "6", "chr_pos": "87255145", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G506", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.558.558", "start_pos": 558, "end_pos": 558, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QAYMQYCVLCDKEFLGHRIV", "down_seq": "HAQKHYKDGIYSCPICAKNF", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "6", "chr_pos": "87255301", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R558", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.579.579", "start_pos": 579, "end_pos": 579, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775151630", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775151630", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775151630", "url": "https://www.ensembl.org/id/rs1775151630", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HAQKHYKDGIYSCPICAKNF", "down_seq": "SKETFVPHVTLHVKQSSKER", "snv": [ { "evidence": [ { "id": "rs1775151630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775151630" }, { "id": "rs1775151630", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775151630" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "6", "chr_pos": "87255365", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N579", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.651.651", "start_pos": 651, "end_pos": 651, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768468417", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768468417", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768468417", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768468417", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768468417", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768468417#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs768468417", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768468417", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EQRPIKKNSLYSTDFIVFND", "down_seq": "DGSDDENDDKDKSYEPEVIP", "snv": [ { "evidence": [ { "id": "rs768468417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768468417" }, { "id": "rs768468417", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768468417" }, { "id": "rs768468417", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768468417#frequency_tab" }, { "id": "rs768468417", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768468417" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "6", "chr_pos": "87255581", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N651", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "O60281-1.654.654", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.733.733", "start_pos": 733, "end_pos": 733, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775181740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775181740", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775181740", "url": "https://www.ensembl.org/id/rs1775181740", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RFLEMQSKKVICQYCRRHFV", "down_seq": "VTHLNDHLQMHCGSKPYICI", "snv": [ { "evidence": [ { "id": "rs1775181740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775181740" }, { "id": "rs1775181740", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775181740" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SVT->NVT).", "chr_id": "6", "chr_pos": "87255827", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S733", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.771.771", "start_pos": 771, "end_pos": 771, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ICIQMKCKAGFNSYAELLTH", "down_seq": "KEHQVFRAKCMFPKCGRIFS", "snv": [ { "evidence": [ { "id": "O60281", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60281" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "87255941", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R771", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.878.878", "start_pos": 878, "end_pos": 878, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773899914", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773899914", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773899914", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773899914", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773899914", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773899914#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773899914", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773899914", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "NQNTAENIEKERSMLPSENN", "down_seq": "ENSLLADRSDAWDKSKAESA", "snv": [ { "evidence": [ { "id": "rs773899914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773899914" }, { "id": "rs773899914", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773899914" }, { "id": "rs773899914", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773899914#frequency_tab" }, { "id": "rs773899914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773899914" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNI->NNS).", "chr_id": "6", "chr_pos": "87256262", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I878", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "O60281-1.862.862", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "O60281-1.874.874", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "O60281-1.885.885", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.885.885", "start_pos": 885, "end_pos": 885, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775207834", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775207834", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775207834", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775207834#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IEKERSMLPSENNIENSLLA", "down_seq": "RSDAWDKSKAESAVTKQDQI", "snv": [ { "evidence": [ { "id": "rs1775207834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775207834" }, { "id": "rs1775207834", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775207834#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "6", "chr_pos": "87256282", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D885", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "O60281-1.874.874", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "O60281-1.878.878", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.916.916", "start_pos": 916, "end_pos": 916, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200493048", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200493048", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200493048", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200493048", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200493048", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200493048#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200493048", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200493048", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ESAVTKQDQISASELRQANG", "down_seq": "LSNGLENPATTPLLQSSEVA", "snv": [ { "evidence": [ { "id": "rs200493048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200493048" }, { "id": "rs200493048", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200493048" }, { "id": "rs200493048", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200493048#frequency_tab" }, { "id": "rs200493048", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200493048" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGP->NGS).", "chr_id": "6", "chr_pos": "87256375", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P916", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.981.981", "start_pos": 981, "end_pos": 981, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1214057821", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214057821", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1214057821", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214057821", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GSGEALVTDLHTPVEDTCND", "down_seq": "CHPGFQERKEQDCFNDAHVT", "snv": [ { "evidence": [ { "id": "rs1214057821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214057821" }, { "id": "rs1214057821", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214057821" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDL->NDS).", "chr_id": "6", "chr_pos": "87256571", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L981", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.1159.1159", "start_pos": 1159, "end_pos": 1159, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" }, { "database": "iPTMnet", "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] } ], "crossref": [ { "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GQKANNLNTPNNGKFVYFLP", "down_seq": "PVNSSNPFFTSQTKANGNPA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281" } ], "site_lbl": "Ser1159" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "O60281-1.1146.1146", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "O60281-1.1148.1148", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60281-1.1628.1628", "start_pos": 1628, "end_pos": 1628, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O60281-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VISGPQNTRSSHLNKKGNSA", "down_seq": "KRRKKVAPPLIAPNASQNLV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1628" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "O60281-1.1626.1626", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "O60281-1.1627.1627", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60281-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "iPTMnet", "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281" }, { "database": "IEDB", "id": "452552", "url": "https://www.iedb.org/epitope/452552" }, { "database": "IEDB", "id": "454947", "url": "https://www.iedb.org/epitope/454947" }, { "database": "IEDB", "id": "458213", "url": "https://www.iedb.org/epitope/458213" }, { "database": "IEDB", "id": "460369", "url": "https://www.iedb.org/epitope/460369" }, { "database": "IEDB", "id": "467292", "url": "https://www.iedb.org/epitope/467292" }, { "database": "IEDB", "id": "715333", "url": "https://www.iedb.org/epitope/715333" }, { "database": "IEDB", "id": "1360434", "url": "https://www.iedb.org/epitope/1360434" }, { "database": "IEDB", "id": "1370647", "url": "https://www.iedb.org/epitope/1370647" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] } ], "crossref": [ { "id": "O60281", "url": "https://www.iedb.org/epitope/O60281", "database": "IEDB", "categories": [ "Other" ] }, { "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VDCKDALEMICNLESEGDEK", "down_seq": "ALVLCTAFLSRQLQQGDMYC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "O60281", "url": "https://www.iedb.org/epitope/O60281" }, { "database": "iPTMnet", "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Ser271" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "O60281-1.272.272", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60281-1.654.654", "start_pos": 654, "end_pos": 654, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PIKKNSLYSTDFIVFNDNDG", "down_seq": "DDENDDKDKSYEPEVIPVQK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "site_lbl": "Ser654" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "O60281-1.651.651", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60281-1.820.820", "start_pos": 820, "end_pos": 820, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "iPTMnet", "id": "O60281-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EAQHYNTYTCKFTGCGKVYR", "down_seq": "QGELEKHLDDHSTPPEKVLP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser820" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O60281-1.874.874", "start_pos": 874, "end_pos": 874, "uniprot_canonical_ac": "O60281-1", "length": 2723, "uniprot_id": "ZN292_HUMAN", "protein_name": "Zinc finger protein 292", "refseq_ac": "NP_055836", "refseq_name": "zinc finger protein 292 isoform 1", "gene_name": "ZNF292", "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60281", "url": "https://www.uniprot.org/uniprotkb/O60281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60281-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PSEVNQNTAENIEKERSMLP", "down_seq": "ENNIENSLLADRSDAWDKSK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60281", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60281" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser874" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" } ] }, { "type": "snv", "site_list": [ { "start_pos": "862", "end_pos": "862" }, { "start_pos": "1005", "end_pos": "1005" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1030", "end_pos": "1030" }, { "start_pos": "1044", "end_pos": "1044" }, { "start_pos": "1061", "end_pos": "1061" }, { "start_pos": "1064", "end_pos": "1064" }, { "start_pos": "1079", "end_pos": "1079" }, { "start_pos": "1081", "end_pos": "1081" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1107", "end_pos": "1107" }, { "start_pos": "1146", "end_pos": "1146" }, { "start_pos": "1148", "end_pos": "1148" }, { "start_pos": "1198", "end_pos": "1198" }, { "start_pos": "1235", "end_pos": "1235" }, { "start_pos": "1257", "end_pos": "1257" }, { "start_pos": "1269", "end_pos": "1269" }, { "start_pos": "1306", "end_pos": "1306" }, { "start_pos": "1349", "end_pos": "1349" }, { "start_pos": "1397", "end_pos": "1397" }, { "start_pos": "1461", "end_pos": "1461" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1507", "end_pos": "1507" }, { "start_pos": "1526", "end_pos": "1526" }, { "start_pos": "1531", "end_pos": "1531" }, { "start_pos": "1557", "end_pos": "1557" }, { "start_pos": "1575", "end_pos": "1575" }, { "start_pos": "1601", "end_pos": "1601" }, { "start_pos": "1626", "end_pos": "1626" }, { "start_pos": "1627", "end_pos": "1627" }, { "start_pos": "1674", "end_pos": "1674" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1752", "end_pos": "1752" }, { "start_pos": "1777", "end_pos": "1777" }, { "start_pos": "1792", "end_pos": "1792" }, { "start_pos": "1808", "end_pos": "1808" }, { "start_pos": "1872", "end_pos": "1872" }, { "start_pos": "1908", "end_pos": "1908" }, { "start_pos": "1998", "end_pos": "1998" }, { "start_pos": "2017", "end_pos": "2017" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2070", "end_pos": "2070" }, { "start_pos": "2115", "end_pos": "2115" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "2173", "end_pos": "2173" }, { "start_pos": "2177", "end_pos": "2177" }, { "start_pos": "2178", "end_pos": "2178" }, { "start_pos": "2199", "end_pos": "2199" }, { "start_pos": "2209", "end_pos": "2209" }, { "start_pos": "2224", "end_pos": "2224" }, { "start_pos": "2242", "end_pos": "2242" }, { "start_pos": "2321", "end_pos": "2321" }, { "start_pos": "2341", "end_pos": "2341" }, { "start_pos": "2356", "end_pos": "2356" }, { "start_pos": "2429", "end_pos": "2429" }, { "start_pos": "2544", "end_pos": "2544" }, { "start_pos": "2562", "end_pos": "2562" }, { "start_pos": "2582", "end_pos": "2582" }, { "start_pos": "2657", "end_pos": "2657" }, { "start_pos": "2675", "end_pos": "2675" }, { "start_pos": "2676", "end_pos": "2676" }, { "start_pos": "2704", "end_pos": "2704" }, { "start_pos": "2716", "end_pos": "2716" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "506", "end_pos": "506" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "651", "end_pos": "651" }, { "start_pos": "733", "end_pos": "733" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "878", "end_pos": "878" }, { "start_pos": "885", "end_pos": "885" }, { "start_pos": "916", "end_pos": "916" }, { "start_pos": "981", "end_pos": "981" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "1628", "end_pos": "1628" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "820", "end_pos": "820" }, { "start_pos": "874", "end_pos": "874" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "O60281-1.862.862", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "O60281-1.878.878", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "O60281-1.885.885", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HAV4-1.1004.1004", "start_pos": 1004, "end_pos": 1004, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "Q9HAV4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HAV4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DHSSAPPADGDDEEMMATEV", "down_seq": "PSAMAELTDLGKCLMKHEDV", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1004", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q9HAV4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HAV4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "43525895", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T1004", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HAV4-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HAV4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HAV4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HAV4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HAV4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HAV4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HAV4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9HAV4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HAV4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HAV4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q9HAV4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HAV4" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HAV4-1.1087.1087", "start_pos": 1087, "end_pos": 1087, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1265824264", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265824264", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1265824264", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1265824264#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1265824264", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1265824264", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DAVTWLFTSVLKGLQMHGQH", "down_seq": "GCMASLVHLAFQIYEALRPR", "snv": [ { "evidence": [ { "id": "rs1265824264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265824264" }, { "id": "rs1265824264", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1265824264#frequency_tab" }, { "id": "rs1265824264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1265824264" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGC->NGC).", "chr_id": "6", "chr_pos": "43524884", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1087", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HAV4-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs376311596", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376311596", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376311596", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376311596#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376311596", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376311596", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LTQNMERIFSFLLNTLQENV", "down_seq": "KYQQVKTDTSQESKAQANCR", "snv": [ { "evidence": [ { "id": "rs376311596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376311596" }, { "id": "rs376311596", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376311596#frequency_tab" }, { "id": "rs376311596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376311596" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "6", "chr_pos": "43570518", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N202", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9HAV4-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9HAV4-1.210.210", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HAV4-1.204.204", "start_pos": 204, "end_pos": 204, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1208557027", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208557027", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1208557027", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208557027", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QNMERIFSFLLNTLQENVNK", "down_seq": "QQVKTDTSQESKAQANCRVG", "snv": [ { "evidence": [ { "id": "rs1208557027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208557027" }, { "id": "rs1208557027", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208557027" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKY->NKC).", "chr_id": "6", "chr_pos": "43570512", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y204", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9HAV4-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9HAV4-1.210.210", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HAV4-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9HAV4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HAV4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "FSFLLNTLQENVNKYQQVKT", "down_seq": "TSQESKAQANCRVGVAALNT", "snv": [ { "evidence": [ { "id": "Q9HAV4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HAV4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "6", "chr_pos": "43568731", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D210", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9HAV4-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9HAV4-1.204.204", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HAV4-1.610.610", "start_pos": 610, "end_pos": 610, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9HAV4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HAV4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs12173786", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12173786", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs12173786", "url": "https://www.ensembl.org/id/rs12173786", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KAPRTRAVRNVRRHACSSII", "down_seq": "MCRDYPQLVLPNFDMLYNHV", "snv": [ { "evidence": [ { "id": "Q9HAV4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HAV4" }, { "id": "rs12173786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12173786" }, { "id": "rs12173786", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs12173786" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KMC->NMC).", "chr_id": "6", "chr_pos": "43549519", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K610", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HAV4-1.719.719", "start_pos": 719, "end_pos": 719, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs890887628", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs890887628", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs890887628", "url": "https://www.ncbi.nlm.nih.gov/snp/rs890887628#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs890887628", "url": "http://gnomad.broadinstitute.org/awesome?query=rs890887628", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VGTDQKSCDPGLEDPCGLNR", "down_seq": "RMSFCVYSILGVVKRTCWPT", "snv": [ { "evidence": [ { "id": "rs890887628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs890887628" }, { "id": "rs890887628", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs890887628#frequency_tab" }, { "id": "rs890887628", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs890887628" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "6", "chr_pos": "43547613", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A719", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9HAV4-1.722.722", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HAV4-1.883.883", "start_pos": 883, "end_pos": 883, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs777840486", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777840486", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777840486", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777840486", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777840486", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777840486", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "YTVEDLATQLLSSAFVNLNN", "down_seq": "PDYRLRPMLRVFVKPLVLFC", "snv": [ { "evidence": [ { "id": "rs777840486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777840486" }, { "id": "rs777840486", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777840486" }, { "id": "rs777840486", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777840486" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNI->NNT).", "chr_id": "6", "chr_pos": "43530717", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I883", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9HAV4-1.1137.1137", "start_pos": 1137, "end_pos": 1137, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QIPEIQKDSLDQFDCKLLNP", "down_seq": "LQKVADKRRKDQFKRLIAGC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1137" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HAV4-1.345.345", "start_pos": 345, "end_pos": 345, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ERK Activation Globally Downregulates miRNAs through Phosphorylating Exportin-5.", "journal": "Cancer cell", "date": "2016-11-14", "authors": "Sun Hui-Lung, Cui Ri, Zhou JianKang, Teng Kun-Yu, Hsiao Yung-Hsuan, Nakanishi Kotaro, Fassan Matteo, Luo Zhenghua, Shi Guqin, Tili Esmerina, Kutay Huban, Lovat Francesca, Vicentini Caterina, Huang Han-Li, Wang Shih-Wei, Kim Taewan, Zanesi Nicola, Jeon Young-Jun, Lee Tae Jin, Guh Jih-Hwa, Hung Mien-Chie, Ghoshal Kalpana, Teng Che-Ming, Peng Yong, Croce Carlo M", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390" } ] } ], "crossref": [ { "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VLCALGNQLCALLGADSDVE", "down_seq": "PSNFGKYLESFLAFTTHPSQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" }, { "database": "PubMed", "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390" } ], "site_lbl": "Thr345" }, { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" }, { "database": "PubMed", "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390" } ], "site_lbl": "Thr345" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HAV4-1.416.416", "start_pos": 416, "end_pos": 416, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ERK Activation Globally Downregulates miRNAs through Phosphorylating Exportin-5.", "journal": "Cancer cell", "date": "2016-11-14", "authors": "Sun Hui-Lung, Cui Ri, Zhou JianKang, Teng Kun-Yu, Hsiao Yung-Hsuan, Nakanishi Kotaro, Fassan Matteo, Luo Zhenghua, Shi Guqin, Tili Esmerina, Kutay Huban, Lovat Francesca, Vicentini Caterina, Huang Han-Li, Wang Shih-Wei, Kim Taewan, Zanesi Nicola, Jeon Young-Jun, Lee Tae Jin, Guh Jih-Hwa, Hung Mien-Chie, Ghoshal Kalpana, Teng Che-Ming, Peng Yong, Croce Carlo M", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390" } ] } ], "crossref": [ { "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KYLRASMTNLVKMGFPSKTD", "down_seq": "PSCEYSRFDFDSDEDFNAFF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" }, { "database": "PubMed", "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390" } ], "site_lbl": "Ser416" }, { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" }, { "database": "PubMed", "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390" } ], "site_lbl": "Ser416" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HAV4-1.497.497", "start_pos": 497, "end_pos": 497, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ERK Activation Globally Downregulates miRNAs through Phosphorylating Exportin-5.", "journal": "Cancer cell", "date": "2016-11-14", "authors": "Sun Hui-Lung, Cui Ri, Zhou JianKang, Teng Kun-Yu, Hsiao Yung-Hsuan, Nakanishi Kotaro, Fassan Matteo, Luo Zhenghua, Shi Guqin, Tili Esmerina, Kutay Huban, Lovat Francesca, Vicentini Caterina, Huang Han-Li, Wang Shih-Wei, Kim Taewan, Zanesi Nicola, Jeon Young-Jun, Lee Tae Jin, Guh Jih-Hwa, Hung Mien-Chie, Ghoshal Kalpana, Teng Che-Ming, Peng Yong, Croce Carlo M", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390" } ] } ], "crossref": [ { "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GSVNSCSAVGTGEGSLCSVF", "down_seq": "PSFVQWEAMTLFLESVITQM", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" }, { "database": "PubMed", "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390" } ], "site_lbl": "Ser497" }, { "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" }, { "database": "PubMed", "id": "27846390", "url": "https://glygen.org/publication/PubMed/27846390" } ], "site_lbl": "Ser497" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HAV4-1.722.722", "start_pos": 722, "end_pos": 722, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DQKSCDPGLEDPCGLNRARM", "down_seq": "FCVYSILGVVKRTCWPTDLE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser722" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9HAV4-1.719.719", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9HAV4-1.826.826", "start_pos": 826, "end_pos": 826, "uniprot_canonical_ac": "Q9HAV4-1", "length": 1204, "uniprot_id": "XPO5_HUMAN", "protein_name": "Exportin-5", "refseq_ac": "NP_065801", "refseq_name": "exportin-5", "gene_name": "XPO5", "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" }, { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDAEKSAILGLPQPLLELND", "down_seq": "PVFKTVLERMQRFFSTLYEN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HAV4", "url": "https://www.uniprot.org/uniprotkb/Q9HAV4" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "Q9HAV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HAV4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser826" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1004", "end_pos": "1004" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1004", "end_pos": "1004" }, { "start_pos": "1087", "end_pos": "1087" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "610", "end_pos": "610" }, { "start_pos": "719", "end_pos": "719" }, { "start_pos": "883", "end_pos": "883" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1137", "end_pos": "1137" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "722", "end_pos": "722" }, { "start_pos": "826", "end_pos": "826" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86XD8-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q86XD8-1", "length": 727, "uniprot_id": "ZFAN4_HUMAN", "protein_name": "AN1-type zinc finger protein 4", "refseq_ac": "NP_001269835", "refseq_name": "AN1-type zinc finger protein 4 isoform b", "gene_name": "ZFAND4", "gene_names_uniprotkb": "ZFAND4; ANUBL1", "gene_names_refseq": "ANUBL1; ZFAND4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86XD8", "url": "https://www.uniprot.org/uniprotkb/Q86XD8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86XD8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86XD8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86XD8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86XD8", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q86XD8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86XD8" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "188", "end_pos": "188" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "290", "end_pos": "290" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86XD8-1.188.188", "start_pos": 188, "end_pos": 188, "uniprot_canonical_ac": "Q86XD8-1", "length": 727, "uniprot_id": "ZFAN4_HUMAN", "protein_name": "AN1-type zinc finger protein 4", "refseq_ac": "NP_001269835", "refseq_name": "AN1-type zinc finger protein 4 isoform b", "gene_name": "ZFAND4", "gene_names_uniprotkb": "ZFAND4; ANUBL1", "gene_names_refseq": "ANUBL1; ZFAND4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86XD8", "url": "https://www.uniprot.org/uniprotkb/Q86XD8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86XD8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86XD8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SDSSKKIDFHLHVLRRKGEH", "down_seq": "MSGGSMYNSDTDEDEETEPS", "snv": [ { "evidence": [ { "id": "Q86XD8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86XD8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "10", "chr_pos": "45648301", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R188", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "188", "end_pos": "188" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "290", "end_pos": "290" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86XD8-1.265.265", "start_pos": 265, "end_pos": 265, "uniprot_canonical_ac": "Q86XD8-1", "length": 727, "uniprot_id": "ZFAN4_HUMAN", "protein_name": "AN1-type zinc finger protein 4", "refseq_ac": "NP_001269835", "refseq_name": "AN1-type zinc finger protein 4 isoform b", "gene_name": "ZFAND4", "gene_names_uniprotkb": "ZFAND4; ANUBL1", "gene_names_refseq": "ANUBL1; ZFAND4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86XD8", "url": "https://www.uniprot.org/uniprotkb/Q86XD8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86XD8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86XD8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KIKPHPPVAPRPSSGSTAPS", "down_seq": "HRLLRVLPNIGQSCSPAFGN", "snv": [ { "evidence": [ { "id": "Q86XD8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86XD8" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "10", "chr_pos": "45627029", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R265", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "188", "end_pos": "188" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "290", "end_pos": "290" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86XD8-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "Q86XD8-1", "length": 727, "uniprot_id": "ZFAN4_HUMAN", "protein_name": "AN1-type zinc finger protein 4", "refseq_ac": "NP_001269835", "refseq_name": "AN1-type zinc finger protein 4 isoform b", "gene_name": "ZFAND4", "gene_names_uniprotkb": "ZFAND4; ANUBL1", "gene_names_refseq": "ANUBL1; ZFAND4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86XD8", "url": "https://www.uniprot.org/uniprotkb/Q86XD8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86XD8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86XD8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RVLPNIGQSCSPAFGNAYPP", "down_seq": "ISRNGISSLATQLSAERYIS", "snv": [ { "evidence": [ { "id": "Q86XD8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86XD8" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "10", "chr_pos": "45626955", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E290", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "188", "end_pos": "188" }, { "start_pos": "265", "end_pos": "265" }, { "start_pos": "290", "end_pos": "290" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWY8-1.33.33", "start_pos": 33, "end_pos": 33, "uniprot_canonical_ac": "Q8IWY8-1", "length": 852, "uniprot_id": "ZSC29_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 29", "refseq_ac": "NP_689668", "refseq_name": "zinc finger and SCAN domain-containing protein 29", "gene_name": "ZSCAN29", "gene_names_uniprotkb": "ZSCAN29; ZNF690", "gene_names_refseq": "ZNF690; ZSCAN29; Zfp690", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWY8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWY8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NSETFRQRFRRFHYQEVAGP", "down_seq": "EAFSQLWELCCRWLRPEVRT", "snv": [ { "evidence": [ { "id": "Q8IWY8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWY8" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "43369817", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R33", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "561", "end_pos": "561" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q8IWY8-1.49.49", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWY8-1.437.437", "start_pos": 437, "end_pos": 437, "uniprot_canonical_ac": "Q8IWY8-1", "length": 852, "uniprot_id": "ZSC29_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 29", "refseq_ac": "NP_689668", "refseq_name": "zinc finger and SCAN domain-containing protein 29", "gene_name": "ZSCAN29", "gene_names_uniprotkb": "ZSCAN29; ZNF690", "gene_names_refseq": "ZNF690; ZSCAN29; Zfp690", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWY8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWY8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KTYLAILSETQFYEALRNCH", "down_seq": "NSQLYGAVAERLWEYGFLRT", "snv": [ { "evidence": [ { "id": "Q8IWY8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWY8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "43364295", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R437", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "561", "end_pos": "561" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWY8-1.473.473", "start_pos": 473, "end_pos": 473, "uniprot_canonical_ac": "Q8IWY8-1", "length": 852, "uniprot_id": "ZSC29_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 29", "refseq_ac": "NP_689668", "refseq_name": "zinc finger and SCAN domain-containing protein 29", "gene_name": "ZSCAN29", "gene_names_uniprotkb": "ZSCAN29; ZNF690", "gene_names_refseq": "ZNF690; ZSCAN29; Zfp690", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWY8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWY8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GFLRTPEQCRTKFKSLQTSY", "down_seq": "KVKNGQAPETCPFFEEMDAL", "snv": [ { "evidence": [ { "id": "Q8IWY8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWY8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "15", "chr_pos": "43364188", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R473", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "561", "end_pos": "561" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWY8-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "Q8IWY8-1", "length": 852, "uniprot_id": "ZSC29_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 29", "refseq_ac": "NP_689668", "refseq_name": "zinc finger and SCAN domain-containing protein 29", "gene_name": "ZSCAN29", "gene_names_uniprotkb": "ZSCAN29; ZNF690", "gene_names_refseq": "ZNF690; ZSCAN29; Zfp690", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWY8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWY8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VAGPREAFSQLWELCCRWLR", "down_seq": "EVRTKEQIVELLVLEQFLTV", "snv": [ { "evidence": [ { "id": "Q8IWY8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWY8" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "43369768", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P49", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "561", "end_pos": "561" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q8IWY8-1.33.33", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWY8-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "Q8IWY8-1", "length": 852, "uniprot_id": "ZSC29_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 29", "refseq_ac": "NP_689668", "refseq_name": "zinc finger and SCAN domain-containing protein 29", "gene_name": "ZSCAN29", "gene_names_uniprotkb": "ZSCAN29; ZNF690", "gene_names_refseq": "ZNF690; ZSCAN29; Zfp690", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" }, { "database": "iPTMnet", "id": "Q8IWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWY8" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" }, { "database": "iPTMnet", "id": "Q8IWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWY8" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q8IWY8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWY8-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWY8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VRQESVEPQPRGVPKKERAR", "down_seq": "PDLGPQEQMNPKEKLKPFQR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q8IWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWY8" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser153" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "561", "end_pos": "561" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWY8-1.561.561", "start_pos": 561, "end_pos": 561, "uniprot_canonical_ac": "Q8IWY8-1", "length": 852, "uniprot_id": "ZSC29_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 29", "refseq_ac": "NP_689668", "refseq_name": "zinc finger and SCAN domain-containing protein 29", "gene_name": "ZSCAN29", "gene_names_uniprotkb": "ZSCAN29; ZNF690", "gene_names_refseq": "ZNF690; ZSCAN29; Zfp690", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" }, { "database": "iPTMnet", "id": "Q8IWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWY8" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q8IWY8-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWY8-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWY8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EEDTEIPPGAVITRAPVLFQ", "down_seq": "PRGFEAGFENEDNSKRDISE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWY8", "url": "https://www.uniprot.org/uniprotkb/Q8IWY8" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8IWY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWY8" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser561" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "49", "end_pos": "49" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "561", "end_pos": "561" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.138.138", "start_pos": 138, "end_pos": 138, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs756670969", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756670969", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756670969", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756670969", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756670969", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756670969#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs756670969", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756670969", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GQHGFNFFPSGIDFSAWGNN", "down_seq": "SQGQSTQSSGYSSNYAYAPS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser138", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ] } ], "snv": [ { "evidence": [ { "id": "rs756670969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756670969" }, { "id": "rs756670969", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756670969" }, { "id": "rs756670969", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756670969#frequency_tab" }, { "id": "rs756670969", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756670969" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "28742682", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "1", "chr_pos": "28742683", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S138", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9Y5A9-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y5A9-1.130.130", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.196.196", "start_pos": 196, "end_pos": 196, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs780424145", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780424145", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780424145", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780424145", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780424145", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780424145", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LNKAPGMNTIDQGMAALKLG", "down_seq": "TEVASNVPKVVGSAVGSGSI", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser196", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ] } ], "snv": [ { "evidence": [ { "id": "rs780424145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780424145" }, { "id": "rs780424145", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780424145" }, { "id": "rs780424145", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780424145" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "28742856", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "28742857", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S196", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "site_lbl": "Ser196" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9Y5A9-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y5A9-1.197.197", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y5A9-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y5A9-1.213.213", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y5A9-1.215.215", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 18 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.197.197", "start_pos": 197, "end_pos": 197, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs371581390", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371581390", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371581390", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371581390", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371581390", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371581390#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371581390", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371581390", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2087799999", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087799999", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2087799999", "url": "https://www.ensembl.org/id/rs2087799999", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NKAPGMNTIDQGMAALKLGS", "down_seq": "EVASNVPKVVGSAVGSGSIT", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr197", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ] } ], "snv": [ { "evidence": [ { "id": "rs371581390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371581390" }, { "id": "rs371581390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371581390" }, { "id": "rs371581390", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371581390#frequency_tab" }, { "id": "rs371581390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371581390" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "28742859", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2087799999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087799999" }, { "id": "rs2087799999", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2087799999" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "28742860", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T197", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371581390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371581390" }, { "id": "rs371581390", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371581390" }, { "id": "rs371581390", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371581390#frequency_tab" }, { "id": "rs371581390", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371581390" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "28742859", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T197", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9Y5A9-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y5A9-1.196.196", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y5A9-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y5A9-1.213.213", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y5A9-1.215.215", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.213.213", "start_pos": 213, "end_pos": 213, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs2087800686", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087800686", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2087800686", "url": "https://www.ensembl.org/id/rs2087800686", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs759344049", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759344049", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759344049", "url": "https://www.ensembl.org/id/rs759344049", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KLGSTEVASNVPKVVGSAVG", "down_seq": "GSITSNIVASNSLPPATIAP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser213", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ] } ], "snv": [ { "evidence": [ { "id": "rs2087800686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087800686" }, { "id": "rs2087800686", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2087800686" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SGS->NGS); o-glyco-site-loss (S->N).", "chr_id": "1", "chr_pos": "28742908", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759344049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759344049" }, { "id": "rs759344049", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs759344049" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "28742907", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S213", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9Y5A9-1.196.196", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y5A9-1.197.197", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y5A9-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y5A9-1.215.215", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y5A9-1.225.225", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y5A9-1.230.230", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.215.215", "start_pos": 215, "end_pos": 215, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs775099237", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775099237", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775099237", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775099237", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775099237", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775099237", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GSTEVASNVPKVVGSAVGSG", "down_seq": "ITSNIVASNSLPPATIAPPK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser215", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ] } ], "snv": [ { "evidence": [ { "id": "rs775099237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775099237" }, { "id": "rs775099237", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775099237" }, { "id": "rs775099237", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775099237" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "1", "chr_pos": "28742914", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "28742914", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S215", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y5A9-1.196.196", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y5A9-1.197.197", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y5A9-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y5A9-1.213.213", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y5A9-1.225.225", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y5A9-1.230.230", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs2087801653", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087801653", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2087801653", "url": "https://www.ensembl.org/id/rs2087801653", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KVVGSAVGSGSITSNIVASN", "down_seq": "LPPATIAPPKPASWADIASK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser225", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ] } ], "snv": [ { "evidence": [ { "id": "rs2087801653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087801653" }, { "id": "rs2087801653", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2087801653" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "28742943", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S225", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9Y5A9-1.213.213", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y5A9-1.215.215", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y5A9-1.230.230", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y5A9-1.238.238", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.230.230", "start_pos": 230, "end_pos": 230, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs2087801903", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087801903", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2087801903", "url": "https://www.ensembl.org/id/rs2087801903", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AVGSGSITSNIVASNSLPPA", "down_seq": "IAPPKPASWADIASKPAKQQ", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr230", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ] } ], "snv": [ { "evidence": [ { "id": "rs2087801903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087801903" }, { "id": "rs2087801903", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2087801903" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "28742958", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T230", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9Y5A9-1.213.213", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y5A9-1.215.215", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y5A9-1.225.225", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y5A9-1.238.238", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SNIVASNSLPPATIAPPKPA", "down_seq": "WADIASKPAKQQPKLKTKNG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser238", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9Y5A9-1.225.225", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y5A9-1.230.230", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.263.263", "start_pos": 263, "end_pos": 263, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs566255611", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566255611", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs566255611", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566255611", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs566255611", "url": "https://www.ncbi.nlm.nih.gov/snp/rs566255611#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs566255611", "url": "http://gnomad.broadinstitute.org/awesome?query=rs566255611", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ASKPAKQQPKLKTKNGIAGS", "down_seq": "LPPPPIKHNMDIGTWDNKGP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser263", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ] } ], "snv": [ { "evidence": [ { "id": "rs566255611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566255611" }, { "id": "rs566255611", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566255611" }, { "id": "rs566255611", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs566255611#frequency_tab" }, { "id": "rs566255611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs566255611" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "28743057", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S263", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.381.381", "start_pos": 381, "end_pos": 381, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "EGFR/SRC/ERK-stabilized YTHDF2 promotes cholesterol dysregulation and invasive growth of glioblastoma.", "journal": "Nature communications", "date": "2021-01-08", "authors": "Fang Runping, Chen Xin, Zhang Sicong, Shi Hui, Ye Youqiong, Shi Hailing, Zou Zhongyu, Li Peng, Guo Qing, Ma Li, He Chuan, Huang Suyun", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33420027", "url": "https://glygen.org/publication/PubMed/33420027" } ] } ], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1159069894", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159069894", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1159069894", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1159069894#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1159069894", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159069894", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "33420027", "url": "https://glygen.org/publication/PubMed/33420027", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FGHNGVDGNGVGQSQAGSGS", "down_seq": "PSEPHPVLEKLRSINNYNPK", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr381", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1159069894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159069894" }, { "id": "rs1159069894", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1159069894#frequency_tab" }, { "id": "rs1159069894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159069894" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "28743411", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T381", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" }, { "database": "PubMed", "id": "33420027", "url": "https://glygen.org/publication/PubMed/33420027" } ], "site_lbl": "Thr381" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q9Y5A9-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y5A9-1.394.394", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y5A9-1.398.398", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.448.448", "start_pos": 448, "end_pos": 448, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "New perspectives on YTHDF2 O-GlcNAc modification in the pathogenesis of intervertebral disc degeneration.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2024-10-18", "authors": "Lu Liangjie, Wang Lijun, Yang Minjie, Wang Huihan", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.", "journal": "Scientific reports", "date": "2025-07-02", "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "O-GlcNAcylation of YTHDF2 promotes HBV-related hepatocellular carcinoma progression in an N6-methyladenosine-dependent manner.", "journal": "Signal transduction and targeted therapy", "date": "2023-02-10", "authors": "Yang Yang, Yan Yu, Yin Jiaxin, Tang Ni, Wang Kai, Huang Luyi, Hu Jie, Feng Zhongqi, Gao Qingzhu, Huang Ailong", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y5A9", "url": "https://oglcnac.org/atlas/detail/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "crossref": [ { "id": "39425013", "url": "https://glygen.org/publication/PubMed/39425013", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "36765030", "url": "https://glygen.org/publication/PubMed/36765030", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs2087812562", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087812562", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2087812562", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2087812562#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2087812562", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2087812562", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KYNIWCSTEHGNKRLDAAYR", "down_seq": "MNGKGPVYLLFSVNGSGHFC", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser448", "evidence": [ { "id": "39425013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39425013" }, { "id": "Q9Y5A9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5A9" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "36765030", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36765030" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "snv": [ { "evidence": [ { "id": "rs2087812562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087812562" }, { "id": "rs2087812562", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2087812562#frequency_tab" }, { "id": "rs2087812562", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2087812562" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "28743613", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "1", "chr_pos": "28743612", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S448", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9Y5A9-1.432.432", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y5A9-1.441.441", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y5A9-1.449.449", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.411.411", "start_pos": 411, "end_pos": 411, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the YTH domain of YTHDF2 reveals mechanism for recognition of N6-methyladenosine.", "journal": "Cell research", "date": "2014", "authors": "Zhu T, Roundtree IA, Wang P, Wang X, Wang L, Sun C, Tian Y, Li J, He C, Xu Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KLRSINNYNPKDFDWNLKHG", "down_seq": "VFIIKSYSEDDIHRSIKYNI", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Slightly decreased binding to RNAs.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y5A9-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y5A9-1.394.394", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y5A9-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y5A9-1.416.416", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.416.416", "start_pos": 416, "end_pos": 416, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the YTH domain of YTHDF2 reveals mechanism for recognition of N6-methyladenosine.", "journal": "Cell research", "date": "2014", "authors": "Zhu T, Roundtree IA, Wang P, Wang X, Wang L, Sun C, Tian Y, Li J, He C, Xu Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NNYNPKDFDWNLKHGRVFII", "down_seq": "SYSEDDIHRSIKYNIWCSTE", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased binding to RNAs.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y5A9-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y5A9-1.411.411", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y5A9-1.432.432", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.432.432", "start_pos": 432, "end_pos": 432, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the YTH domain of YTHDF2 reveals mechanism for recognition of N6-methyladenosine.", "journal": "Cell research", "date": "2014", "authors": "Zhu T, Roundtree IA, Wang P, Wang X, Wang L, Sun C, Tian Y, Li J, He C, Xu Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] }, { "title": "Structure of the YTH domain of human YTHDF2 in complex with an m(6)A mononucleotide reveals an aromatic cage for m(6)A recognition.", "journal": "Cell research", "date": "2014", "authors": "Li F, Zhao D, Wu J, Shi Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "25412658", "url": "https://glygen.org/publication/PubMed/25412658" } ] }, { "title": "m(6)A enhances the phase separation potential of mRNA.", "journal": "Nature", "date": "2019", "authors": "Ries RJ, Zaccara S, Klein P, Olarerin-George A, Namkoong S, Pickering BF, Patil DP, Kwak H, Lee JH, Jaffrey SR", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "31292544", "url": "https://glygen.org/publication/PubMed/31292544" } ] }, { "title": "Multivalent m(6)A motifs promote phase separation of YTHDF proteins.", "journal": "Cell research", "date": "2019", "authors": "Gao Y, Pei G, Li D, Li R, Shao Y, Zhang QC, Li P", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "31388144", "url": "https://glygen.org/publication/PubMed/31388144" } ] }, { "title": "YTHDF2 Binds to 5-Methylcytosine in RNA and Modulates the Maturation of Ribosomal RNA.", "journal": "Analytical chemistry", "date": "2020", "authors": "Dai X, Gonzalez G, Li L, Li J, You C, Miao W, Hu J, Fu L, Zhao Y, Li R, Li L, Chen X, Xu Y, Gu W, Wang Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "31815440", "url": "https://glygen.org/publication/PubMed/31815440" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25412658", "url": "https://glygen.org/publication/PubMed/25412658", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31292544", "url": "https://glygen.org/publication/PubMed/31292544", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31388144", "url": "https://glygen.org/publication/PubMed/31388144", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31815440", "url": "https://glygen.org/publication/PubMed/31815440", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "VFIIKSYSEDDIHRSIKYNI", "down_seq": "CSTEHGNKRLDAAYRSMNGK", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Reduced binding to N6-methyladenosine (m6A)-containing RNAs. Reduced ability to undergo liquid-liquid phase separation. Reduced binding to C5-methylcytosine (m5C)-containing RNAs.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" }, { "database": "PubMed", "id": "25412658", "url": "https://glygen.org/publication/PubMed/25412658" }, { "database": "PubMed", "id": "31292544", "url": "https://glygen.org/publication/PubMed/31292544" }, { "database": "PubMed", "id": "31388144", "url": "https://glygen.org/publication/PubMed/31388144" }, { "database": "PubMed", "id": "31815440", "url": "https://glygen.org/publication/PubMed/31815440" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9Y5A9-1.416.416", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y5A9-1.441.441", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y5A9-1.448.448", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y5A9-1.449.449", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.441.441", "start_pos": 441, "end_pos": 441, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the YTH domain of YTHDF2 reveals mechanism for recognition of N6-methyladenosine.", "journal": "Cell research", "date": "2014", "authors": "Zhu T, Roundtree IA, Wang P, Wang X, Wang L, Sun C, Tian Y, Li J, He C, Xu Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DDIHRSIKYNIWCSTEHGNK", "down_seq": "LDAAYRSMNGKGPVYLLFSV", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Slightly decreased binding to RNAs.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9Y5A9-1.432.432", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y5A9-1.448.448", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y5A9-1.449.449", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.486.486", "start_pos": 486, "end_pos": 486, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the YTH domain of YTHDF2 reveals mechanism for recognition of N6-methyladenosine.", "journal": "Cell research", "date": "2014", "authors": "Zhu T, Roundtree IA, Wang P, Wang X, Wang L, Sun C, Tian Y, Li J, He C, Xu Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] }, { "title": "Structure of the YTH domain of human YTHDF2 in complex with an m(6)A mononucleotide reveals an aromatic cage for m(6)A recognition.", "journal": "Cell research", "date": "2014", "authors": "Li F, Zhao D, Wu J, Shi Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "25412658", "url": "https://glygen.org/publication/PubMed/25412658" } ] }, { "title": "Multivalent m(6)A motifs promote phase separation of YTHDF proteins.", "journal": "Cell research", "date": "2019", "authors": "Gao Y, Pei G, Li D, Li R, Shao Y, Zhang QC, Li P", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "31388144", "url": "https://glygen.org/publication/PubMed/31388144" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25412658", "url": "https://glygen.org/publication/PubMed/25412658", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31388144", "url": "https://glygen.org/publication/PubMed/31388144", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "HFCGVAEMKSAVDYNTCAGV", "down_seq": "SQDKWKGRFDVRWIFVKDVP", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Reduced binding to N6-methyladenosine (m6A)-containing RNAs. Reduced ability to undergo liquid-liquid phase separation; when associated with A-432.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" }, { "database": "PubMed", "id": "25412658", "url": "https://glygen.org/publication/PubMed/25412658" }, { "database": "PubMed", "id": "31388144", "url": "https://glygen.org/publication/PubMed/31388144" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9Y5A9-1.491.491", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.491.491", "start_pos": 491, "end_pos": 491, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure of the YTH domain of human YTHDF2 in complex with an m(6)A mononucleotide reveals an aromatic cage for m(6)A recognition.", "journal": "Cell research", "date": "2014", "authors": "Li F, Zhao D, Wu J, Shi Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "25412658", "url": "https://glygen.org/publication/PubMed/25412658" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25412658", "url": "https://glygen.org/publication/PubMed/25412658", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "AEMKSAVDYNTCAGVWSQDK", "down_seq": "KGRFDVRWIFVKDVPNSQLR", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Reduced binding to N6-methyladenosine (m6A)-containing RNAs.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "25412658", "url": "https://glygen.org/publication/PubMed/25412658" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9Y5A9-1.486.486", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.527.527", "start_pos": 527, "end_pos": 527, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Crystal structure of the YTH domain of YTHDF2 reveals mechanism for recognition of N6-methyladenosine.", "journal": "Cell research", "date": "2014", "authors": "Zhu T, Roundtree IA, Wang P, Wang X, Wang L, Sun C, Tian Y, Li J, He C, Xu Y", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NSQLRHIRLENNENKPVTNS", "down_seq": "DTQEVPLEKAKQVLKIIASY", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased binding to RNAs.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "25412661", "url": "https://glygen.org/publication/PubMed/25412661" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773120628", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773120628", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773120628", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773120628", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773120628", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773120628", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "FGQPGALGSTPFLGQHGFNF", "down_seq": "PSGIDFSAWGNNSSQGQSTQ", "snv": [ { "evidence": [ { "id": "rs773120628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773120628" }, { "id": "rs773120628", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773120628" }, { "id": "rs773120628", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773120628" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFF->NFS).", "chr_id": "1", "chr_pos": "28742644", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F125", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9Y5A9-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y5A9-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.130.130", "start_pos": 130, "end_pos": 130, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ALGSTPFLGQHGFNFFPSGI", "down_seq": "FSAWGNNSSQGQSTQSSGYS", "snv": [ { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "1", "chr_pos": "28742658", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D130", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9Y5A9-1.125.125", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y5A9-1.138.138", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.185.185", "start_pos": 185, "end_pos": 185, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1360308965", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360308965", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1360308965", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1360308965#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1360308965", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360308965", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "IDGQSAFANETLNKAPGMNT", "down_seq": "DQGMAALKLGSTEVASNVPK", "snv": [ { "evidence": [ { "id": "rs1360308965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360308965" }, { "id": "rs1360308965", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1360308965#frequency_tab" }, { "id": "rs1360308965", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360308965" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "1", "chr_pos": "28742824", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I185", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q9Y5A9-1.196.196", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y5A9-1.197.197", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y5A9-1.204.204", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.204.204", "start_pos": 204, "end_pos": 204, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TIDQGMAALKLGSTEVASNV", "down_seq": "KVVGSAVGSGSITSNIVASN", "snv": [ { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "1", "chr_pos": "28742880", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P204", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y5A9-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y5A9-1.196.196", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y5A9-1.197.197", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y5A9-1.213.213", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y5A9-1.215.215", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1454327250", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454327250", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1454327250", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1454327250#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1454327250", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454327250", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NIGQPTQGSPQPVGQQANNS", "down_seq": "PVAQASVGQQTQPLPPPPPQ", "snv": [ { "evidence": [ { "id": "rs1454327250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1454327250" }, { "id": "rs1454327250", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1454327250#frequency_tab" }, { "id": "rs1454327250", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1454327250" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "1", "chr_pos": "28743213", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P315", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.355.355", "start_pos": 355, "end_pos": 355, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QPAQLSVQQQAAQPTRWVAP", "down_seq": "NRGSGFGHNGVDGNGVGQSQ", "snv": [ { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "28743333", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R355", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9Y5A9-1.359.359", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.393.393", "start_pos": 393, "end_pos": 393, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QSQAGSGSTPSEPHPVLEKL", "down_seq": "SINNYNPKDFDWNLKHGRVF", "snv": [ { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "28743448", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R393", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9Y5A9-1.381.381", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y5A9-1.394.394", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y5A9-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y5A9-1.411.411", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.398.398", "start_pos": 398, "end_pos": 398, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SGSTPSEPHPVLEKLRSINN", "down_seq": "NPKDFDWNLKHGRVFIIKSY", "snv": [ { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNY->NNC).", "chr_id": "1", "chr_pos": "28743463", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y398", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9Y5A9-1.381.381", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y5A9-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y5A9-1.394.394", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y5A9-1.411.411", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y5A9-1.416.416", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.449.449", "start_pos": 449, "end_pos": 449, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "YNIWCSTEHGNKRLDAAYRS", "down_seq": "NGKGPVYLLFSVNGSGHFCG", "snv": [ { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "28743616", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M449", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9Y5A9-1.432.432", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y5A9-1.441.441", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y5A9-1.448.448", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DGLNDDDFEPYLSPQARPNN", "down_seq": "YTAMSDSYLPSYYSPSIGFS", "snv": [ { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNS).", "chr_id": "1", "chr_pos": "28742409", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A47", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9Y5A9-1.37.37", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y5A9-1.39.39", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y5A9-1.48.48", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2087790745", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087790745", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2087790745", "url": "https://www.ensembl.org/id/rs2087790745", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GLNDDDFEPYLSPQARPNNA", "down_seq": "TAMSDSYLPSYYSPSIGFSY", "snv": [ { "evidence": [ { "id": "rs2087790745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2087790745" }, { "id": "rs2087790745", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2087790745" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAY->NAC).", "chr_id": "1", "chr_pos": "28742413", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y48", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9Y5A9-1.37.37", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y5A9-1.39.39", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y5A9-1.47.47", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.563.563", "start_pos": 563, "end_pos": 563, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5A9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IIASYKHTTSIFDDFSHYEK", "down_seq": "QEEEESVKKERQGRGK", "snv": [ { "evidence": [ { "id": "Q9Y5A9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5A9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "28743958", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R563", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9Y5A9-1.558.558", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SASSLLEQRPKGQGNKVQNG", "down_seq": "VHQKDGLNDDDFEPYLSPQA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "site_lbl": "Ser22" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y5A9-1.2.2", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y5A9-1.4.4", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y5A9-1.5.5", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y5A9-1.37.37", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y5A9-1.39.39", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y5A9-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "M", "down_seq": "ASSLLEQRPKGQGNKVQNGS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser2" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9Y5A9-1.4.4", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y5A9-1.5.5", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y5A9-1.22.22", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSVQQQAAQPTRWVAPRNRG", "down_seq": "GFGHNGVDGNGVGQSQAGSG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "site_lbl": "Ser359" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9Y5A9-1.355.355", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.37.37", "start_pos": 37, "end_pos": 37, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nat. Biotechnol.", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KVQNGSVHQKDGLNDDDFEP", "down_seq": "LSPQARPNNAYTAMSDSYLP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr37" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9Y5A9-1.22.22", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y5A9-1.39.39", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y5A9-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y5A9-1.48.48", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.394.394", "start_pos": 394, "end_pos": 394, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SQAGSGSTPSEPHPVLEKLR", "down_seq": "INNYNPKDFDWNLKHGRVFI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "site_lbl": "Ser394" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9Y5A9-1.381.381", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y5A9-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y5A9-1.398.398", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y5A9-1.411.411", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.39.39", "start_pos": 39, "end_pos": 39, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. Cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "EGFR/SRC/ERK-stabilized YTHDF2 promotes cholesterol dysregulation and invasive growth of glioblastoma.", "journal": "Nature communications", "date": "2021-01-08", "authors": "Fang Runping, Chen Xin, Zhang Sicong, Shi Hui, Ye Youqiong, Shi Hailing, Zou Zhongyu, Li Peng, Guo Qing, Ma Li, He Chuan, Huang Suyun", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "33420027", "url": "https://glygen.org/publication/PubMed/33420027" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "33420027", "url": "https://glygen.org/publication/PubMed/33420027", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QNGSVHQKDGLNDDDFEPYL", "down_seq": "PQARPNNAYTAMSDSYLPSY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "33420027", "url": "https://glygen.org/publication/PubMed/33420027" } ], "site_lbl": "Ser39" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9Y5A9-1.22.22", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y5A9-1.37.37", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y5A9-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y5A9-1.48.48", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 6 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.4.4", "start_pos": 4, "end_pos": 4, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MSA", "down_seq": "SLLEQRPKGQGNKVQNGSVH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "site_lbl": "Ser4" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9Y5A9-1.2.2", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y5A9-1.5.5", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y5A9-1.22.22", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.558.558", "start_pos": 558, "end_pos": 558, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KQVLKIIASYKHTTSIFDDF", "down_seq": "HYEKRQEEEESVKKERQGRG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser558" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9Y5A9-1.563.563", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y5A9-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "Q9Y5A9-1", "length": 579, "uniprot_id": "YTHD2_HUMAN", "protein_name": "YTH domain-containing family protein 2", "refseq_ac": "NP_001166299", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "gene_name": "YTHDF2", "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MSAS", "down_seq": "LLEQRPKGQGNKVQNGSVHQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5A9", "url": "https://www.uniprot.org/uniprotkb/Q9Y5A9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9Y5A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5A9" } ], "site_lbl": "Ser5" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "213", "end_pos": "213" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "448", "end_pos": "448" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "411", "end_pos": "411" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "432", "end_pos": "432" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "527", "end_pos": "527" } ] }, { "type": "snv", "site_list": [ { "start_pos": "213", "end_pos": "213" }, { "start_pos": "125", "end_pos": "125" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "138", "end_pos": "138" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "398", "end_pos": "398" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "563", "end_pos": "563" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "196", "end_pos": "196" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "394", "end_pos": "394" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "5", "end_pos": "5" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y5A9-1.2.2", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y5A9-1.4.4", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y5A9-1.22.22", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5JVG8-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q5JVG8-1", "length": 444, "uniprot_id": "ZN506_HUMAN", "protein_name": "Zinc finger protein 506", "refseq_ac": "NP_001092739", "refseq_name": "zinc finger protein 506 isoform 1", "gene_name": "ZNF506", "gene_names_uniprotkb": "ZNF506", "gene_names_refseq": "ZNF506", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JVG8", "url": "https://www.uniprot.org/uniprotkb/Q5JVG8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5JVG8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5JVG8" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5JVG8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5JVG8", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q5JVG8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5JVG8" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "200", "end_pos": "200" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "345", "end_pos": "345" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "140", "end_pos": "140" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5JVG8-1.200.200", "start_pos": 200, "end_pos": 200, "uniprot_canonical_ac": "Q5JVG8-1", "length": 444, "uniprot_id": "ZN506_HUMAN", "protein_name": "Zinc finger protein 506", "refseq_ac": "NP_001092739", "refseq_name": "zinc finger protein 506 isoform 1", "gene_name": "ZNF506", "gene_names_uniprotkb": "ZNF506", "gene_names_refseq": "ZNF506", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JVG8", "url": "https://www.uniprot.org/uniprotkb/Q5JVG8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5JVG8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5JVG8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KTFNQSSTRTTYKKIDAGEK", "down_seq": "YKCEECGKAYKQSSHLTTHK", "snv": [ { "evidence": [ { "id": "Q5JVG8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5JVG8" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "19795288", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R200", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "200", "end_pos": "200" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "345", "end_pos": "345" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "140", "end_pos": "140" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5JVG8-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "Q5JVG8-1", "length": 444, "uniprot_id": "ZN506_HUMAN", "protein_name": "Zinc finger protein 506", "refseq_ac": "NP_001092739", "refseq_name": "zinc finger protein 506 isoform 1", "gene_name": "ZNF506", "gene_names_uniprotkb": "ZNF506", "gene_names_refseq": "ZNF506", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JVG8", "url": "https://www.uniprot.org/uniprotkb/Q5JVG8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5JVG8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5JVG8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "TGEKPYRCRECGKAFNHPAT", "down_seq": "FSHKKIHTGEKPYKCDKCGK", "snv": [ { "evidence": [ { "id": "Q5JVG8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5JVG8" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "19795072", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L272", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "200", "end_pos": "200" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "345", "end_pos": "345" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "140", "end_pos": "140" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5JVG8-1.316.316", "start_pos": 316, "end_pos": 316, "uniprot_canonical_ac": "Q5JVG8-1", "length": 444, "uniprot_id": "ZN506_HUMAN", "protein_name": "Zinc finger protein 506", "refseq_ac": "NP_001092739", "refseq_name": "zinc finger protein 506 isoform 1", "gene_name": "ZNF506", "gene_names_uniprotkb": "ZNF506", "gene_names_refseq": "ZNF506", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JVG8", "url": "https://www.uniprot.org/uniprotkb/Q5JVG8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5JVG8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5JVG8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SSSTLTKHEIIHTGEKPYKC", "down_seq": "ECGKAFNRSSNLTKHKRIHT", "snv": [ { "evidence": [ { "id": "Q5JVG8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5JVG8" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "19794939", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E316", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "200", "end_pos": "200" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "345", "end_pos": "345" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "140", "end_pos": "140" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5JVG8-1.345.345", "start_pos": 345, "end_pos": 345, "uniprot_canonical_ac": "Q5JVG8-1", "length": 444, "uniprot_id": "ZN506_HUMAN", "protein_name": "Zinc finger protein 506", "refseq_ac": "NP_001092739", "refseq_name": "zinc finger protein 506 isoform 1", "gene_name": "ZNF506", "gene_names_uniprotkb": "ZNF506", "gene_names_refseq": "ZNF506", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JVG8", "url": "https://www.uniprot.org/uniprotkb/Q5JVG8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5JVG8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5JVG8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SSNLTKHKRIHTGDVPYKCD", "down_seq": "CGKTFTWYSSLSKHKRAHTG", "snv": [ { "evidence": [ { "id": "Q5JVG8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5JVG8" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "19", "chr_pos": "19794854", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E345", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "200", "end_pos": "200" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "345", "end_pos": "345" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "140", "end_pos": "140" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5JVG8-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "Q5JVG8-1", "length": 444, "uniprot_id": "ZN506_HUMAN", "protein_name": "Zinc finger protein 506", "refseq_ac": "NP_001092739", "refseq_name": "zinc finger protein 506 isoform 1", "gene_name": "ZNF506", "gene_names_uniprotkb": "ZNF506", "gene_names_refseq": "ZNF506", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JVG8", "url": "https://www.uniprot.org/uniprotkb/Q5JVG8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ZNF506-dependent positive feedback loop regulates H2AX signaling after DNA damage.", "journal": "Nature communications", "date": "2018", "authors": "Nowsheen S, Aziz K, Luo K, Deng M, Qin B, Yuan J, Jeganathan KB, Yu J, Zhang H, Ding W, van Deursen JM, Lou Z", "evidence": [ { "database": "RefSeq", "id": "NP_001092739", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092739" }, { "database": "iPTMnet", "id": "Q5JVG8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5JVG8" } ], "reference": [ { "type": "PubMed", "id": "30013081", "url": "https://glygen.org/publication/PubMed/30013081" } ] } ], "crossref": [ { "id": "Q5JVG8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5JVG8", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "30013081", "url": "https://glygen.org/publication/PubMed/30013081", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VDECPVHKRGYNGLKQCLAT", "down_seq": "QRKIFQCDEYVKFLHKFSNS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5JVG8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5JVG8" }, { "database": "PubMed", "id": "30013081", "url": "https://glygen.org/publication/PubMed/30013081" } ], "site_lbl": "Thr140" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "200", "end_pos": "200" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "345", "end_pos": "345" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "140", "end_pos": "140" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z7L7-1.552.552", "start_pos": 552, "end_pos": 552, "uniprot_canonical_ac": "Q7Z7L7-1", "length": 766, "uniprot_id": "ZER1_HUMAN", "protein_name": "Protein zer-1 homolog", "refseq_ac": "NP_006327", "refseq_name": "protein zer-1 homolog isoform 1", "gene_name": "ZER1", "gene_names_uniprotkb": "ZER1; C9orf60; ZYG11BL; ZYG", "gene_names_refseq": "C9orf60; ZER1; ZYG11BL; ZYG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "CRL2ZER1/ZYG11B recognizes small N-terminal residues for degradation.", "journal": "Nature communications", "date": "2022-12-10", "authors": "Li Yao, Zhao Yueling, Yan Xiaojie, Ye Chen, Weirich Sara, Zhang Bing, Wang Xiaolu, Song Lili, Jiang Chenhao, Jeltsch Albert, Dong Cheng, Mi Wenyi", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "reference": [ { "type": "PubMed", "id": "36496439", "url": "https://glygen.org/publication/PubMed/36496439" } ] } ], "crossref": [ { "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "36496439", "url": "https://glygen.org/publication/PubMed/36496439", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "QKKLLDKTCDQVMEFSWSAL", "down_seq": "NITDETPDNCEMFLNFNGMK", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Complete loss of N-degron binding.", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" }, { "database": "PubMed", "id": "36496439", "url": "https://glygen.org/publication/PubMed/36496439" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "552", "end_pos": "552" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "257", "end_pos": "257" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "675", "end_pos": "675" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "738", "end_pos": "738" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z7L7-1.597.597", "start_pos": 597, "end_pos": 597, "uniprot_canonical_ac": "Q7Z7L7-1", "length": 766, "uniprot_id": "ZER1_HUMAN", "protein_name": "Protein zer-1 homolog", "refseq_ac": "NP_006327", "refseq_name": "protein zer-1 homolog isoform 1", "gene_name": "ZER1", "gene_names_uniprotkb": "ZER1; C9orf60; ZYG11BL; ZYG", "gene_names_refseq": "C9orf60; ZER1; ZYG11BL; ZYG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "CRL2ZER1/ZYG11B recognizes small N-terminal residues for degradation.", "journal": "Nature communications", "date": "2022-12-10", "authors": "Li Yao, Zhao Yueling, Yan Xiaojie, Ye Chen, Weirich Sara, Zhang Bing, Wang Xiaolu, Song Lili, Jiang Chenhao, Jeltsch Albert, Dong Cheng, Mi Wenyi", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "reference": [ { "type": "PubMed", "id": "36496439", "url": "https://glygen.org/publication/PubMed/36496439" } ] } ], "crossref": [ { "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "36496439", "url": "https://glygen.org/publication/PubMed/36496439", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "CLKEFPEKQELHRNMLGLLG", "down_seq": "VAEVKELRPQLMTSQFISVF", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Complete loss of N-degron binding.", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" }, { "database": "PubMed", "id": "36496439", "url": "https://glygen.org/publication/PubMed/36496439" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "552", "end_pos": "552" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "257", "end_pos": "257" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "675", "end_pos": "675" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "738", "end_pos": "738" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z7L7-1.9.9", "start_pos": 9, "end_pos": 9, "uniprot_canonical_ac": "Q7Z7L7-1", "length": 766, "uniprot_id": "ZER1_HUMAN", "protein_name": "Protein zer-1 homolog", "refseq_ac": "NP_006327", "refseq_name": "protein zer-1 homolog isoform 1", "gene_name": "ZER1", "gene_names_uniprotkb": "ZER1; C9orf60; ZYG11BL; ZYG", "gene_names_refseq": "C9orf60; ZER1; ZYG11BL; ZYG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The Caenorhabditis elegans cell-cycle regulator ZYG-11 defines a conserved family of CUL-2 complex components.", "journal": "EMBO reports", "date": "2007", "authors": "Vasudevan S, Starostina NG, Kipreos ET", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "reference": [ { "type": "PubMed", "id": "17304241", "url": "https://glygen.org/publication/PubMed/17304241" } ] } ], "crossref": [ { "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17304241", "url": "https://glygen.org/publication/PubMed/17304241", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MASDTPES", "down_seq": "MALCTDFCLRNLDGTLGYLL", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Abolishes interaction with ELOC.", "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" }, { "database": "PubMed", "id": "17304241", "url": "https://glygen.org/publication/PubMed/17304241" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "552", "end_pos": "552" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "257", "end_pos": "257" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "675", "end_pos": "675" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "738", "end_pos": "738" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z7L7-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "Q7Z7L7-1", "length": 766, "uniprot_id": "ZER1_HUMAN", "protein_name": "Protein zer-1 homolog", "refseq_ac": "NP_006327", "refseq_name": "protein zer-1 homolog isoform 1", "gene_name": "ZER1", "gene_names_uniprotkb": "ZER1; C9orf60; ZYG11BL; ZYG", "gene_names_refseq": "C9orf60; ZER1; ZYG11BL; ZYG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z7L7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z7L7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DHIRVIVQLHKLRHLDISRD", "down_seq": "LSSYYKFKLTREVLSLFVQK", "snv": [ { "evidence": [ { "id": "Q7Z7L7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z7L7" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "128752826", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R257", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "552", "end_pos": "552" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "257", "end_pos": "257" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "675", "end_pos": "675" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "738", "end_pos": "738" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z7L7-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q7Z7L7-1", "length": 766, "uniprot_id": "ZER1_HUMAN", "protein_name": "Protein zer-1 homolog", "refseq_ac": "NP_006327", "refseq_name": "protein zer-1 homolog isoform 1", "gene_name": "ZER1", "gene_names_uniprotkb": "ZER1; C9orf60; ZYG11BL; ZYG", "gene_names_refseq": "C9orf60; ZER1; ZYG11BL; ZYG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z7L7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z7L7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "KETLRLHPDIFLPSEICDRL", "down_seq": "NEYVELVNAACNFEPHESFF", "snv": [ { "evidence": [ { "id": "Q7Z7L7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z7L7" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "128755415", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V51", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "552", "end_pos": "552" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "257", "end_pos": "257" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "675", "end_pos": "675" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "738", "end_pos": "738" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z7L7-1.675.675", "start_pos": 675, "end_pos": 675, "uniprot_canonical_ac": "Q7Z7L7-1", "length": 766, "uniprot_id": "ZER1_HUMAN", "protein_name": "Protein zer-1 homolog", "refseq_ac": "NP_006327", "refseq_name": "protein zer-1 homolog isoform 1", "gene_name": "ZER1", "gene_names_uniprotkb": "ZER1; C9orf60; ZYG11BL; ZYG", "gene_names_refseq": "C9orf60; ZER1; ZYG11BL; ZYG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z7L7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z7L7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QREEVEERMWAAIQSWDINS", "down_seq": "RNINYRSFEPILRLLPQGIS", "snv": [ { "evidence": [ { "id": "Q7Z7L7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z7L7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "128739949", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R675", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "552", "end_pos": "552" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "257", "end_pos": "257" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "675", "end_pos": "675" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "738", "end_pos": "738" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z7L7-1.738.738", "start_pos": 738, "end_pos": 738, "uniprot_canonical_ac": "Q7Z7L7-1", "length": 766, "uniprot_id": "ZER1_HUMAN", "protein_name": "Protein zer-1 homolog", "refseq_ac": "NP_006327", "refseq_name": "protein zer-1 homolog isoform 1", "gene_name": "ZER1", "gene_names_uniprotkb": "ZER1; C9orf60; ZYG11BL; ZYG", "gene_names_refseq": "C9orf60; ZER1; ZYG11BL; ZYG", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z7L7", "url": "https://www.uniprot.org/uniprotkb/Q7Z7L7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q7Z7L7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z7L7" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q7Z7L7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z7L7", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CPLLIKEGGMPLLRDIIKMA", "down_seq": "ARQETKEMARKVIEHCSNFK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q7Z7L7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z7L7" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Thr738" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "552", "end_pos": "552" }, { "start_pos": "597", "end_pos": "597" }, { "start_pos": "9", "end_pos": "9" } ] }, { "type": "snv", "site_list": [ { "start_pos": "257", "end_pos": "257" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "675", "end_pos": "675" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "738", "end_pos": "738" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q7Z3V5-1.223.223", "start_pos": 223, "end_pos": 223, "uniprot_canonical_ac": "Q7Z3V5-1", "length": 609, "uniprot_id": "ZN571_HUMAN", "protein_name": "Zinc finger protein 571", "refseq_ac": "NP_001277243", "refseq_name": "zinc finger protein 571", "gene_name": "ZNF571", "gene_names_uniprotkb": "ZNF571; HSPC059", "gene_names_refseq": "HSPC059; ZNF571", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3V5", "url": "https://www.uniprot.org/uniprotkb/Q7Z3V5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3V5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3V5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AFGRTSDLIQHQKIHTNEKP", "down_seq": "QCNACGKAFIRGSQLTEHQR", "snv": [ { "evidence": [ { "id": "Q7Z3V5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3V5" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37565761", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y223", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "564", "end_pos": "564" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3V5-1.411.411", "start_pos": 411, "end_pos": 411, "uniprot_canonical_ac": "Q7Z3V5-1", "length": 609, "uniprot_id": "ZN571_HUMAN", "protein_name": "Zinc finger protein 571", "refseq_ac": "NP_001277243", "refseq_name": "zinc finger protein 571", "gene_name": "ZNF571", "gene_names_uniprotkb": "ZNF571; HSPC059", "gene_names_refseq": "HSPC059; ZNF571", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3V5", "url": "https://www.uniprot.org/uniprotkb/Q7Z3V5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3V5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3V5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCKECGKAFISNSNLIQHQ", "down_seq": "IHTGEKPYKCKECGKAFICG", "snv": [ { "evidence": [ { "id": "Q7Z3V5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3V5" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "5", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37565196", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R411", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "564", "end_pos": "564" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3V5-1.485.485", "start_pos": 485, "end_pos": 485, "uniprot_canonical_ac": "Q7Z3V5-1", "length": 609, "uniprot_id": "ZN571_HUMAN", "protein_name": "Zinc finger protein 571", "refseq_ac": "NP_001277243", "refseq_name": "zinc finger protein 571", "gene_name": "ZNF571", "gene_names_uniprotkb": "ZNF571; HSPC059", "gene_names_refseq": "HSPC059; ZNF571", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3V5", "url": "https://www.uniprot.org/uniprotkb/Q7Z3V5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3V5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3V5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HEKIHGEKHYECKECGKTFV", "down_seq": "ATQLTYHQRIHTGEKPYKCK", "snv": [ { "evidence": [ { "id": "Q7Z3V5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3V5" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37564975", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R485", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "564", "end_pos": "564" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z3V5-1.564.564", "start_pos": 564, "end_pos": 564, "uniprot_canonical_ac": "Q7Z3V5-1", "length": 609, "uniprot_id": "ZN571_HUMAN", "protein_name": "Zinc finger protein 571", "refseq_ac": "NP_001277243", "refseq_name": "zinc finger protein 571", "gene_name": "ZNF571", "gene_names_uniprotkb": "ZNF571; HSPC059", "gene_names_refseq": "HSPC059; ZNF571", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z3V5", "url": "https://www.uniprot.org/uniprotkb/Q7Z3V5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z3V5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3V5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "HLTEHLRTHTGEKPYECKEC", "down_seq": "RAFSRGSELTLHQRIHTGEK", "snv": [ { "evidence": [ { "id": "Q7Z3V5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z3V5" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37564737", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G564", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "223", "end_pos": "223" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "485", "end_pos": "485" }, { "start_pos": "564", "end_pos": "564" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60688-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "O60688-1", "length": 119, "uniprot_id": "YPEL1_HUMAN", "protein_name": "Protein yippee-like 1", "refseq_ac": "NP_037445", "refseq_name": "protein yippee-like 1", "gene_name": "YPEL1", "gene_names_uniprotkb": "YPEL1; FKSG3; YPEL", "gene_names_refseq": "FKSG3; YPEL1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60688", "url": "https://www.uniprot.org/uniprotkb/O60688" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60688", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60688", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SVVNVGCGPAEERVLLTGLH", "down_seq": "VADIYCENCKTTLGWKYEHA", "snv": [ { "evidence": [ { "id": "O60688", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60688" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "22", "chr_pos": "21703422", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A73", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "73", "end_pos": "73" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "O60688-1.88.88", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O60688-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "O60688-1", "length": 119, "uniprot_id": "YPEL1_HUMAN", "protein_name": "Protein yippee-like 1", "refseq_ac": "NP_037445", "refseq_name": "protein yippee-like 1", "gene_name": "YPEL1", "gene_names_uniprotkb": "YPEL1; FKSG3; YPEL", "gene_names_refseq": "FKSG3; YPEL1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60688", "url": "https://www.uniprot.org/uniprotkb/O60688" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O60688", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60688", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "LTGLHAVADIYCENCKTTLG", "down_seq": "KYEHAFESSQKYKEGKFIIE", "snv": [ { "evidence": [ { "id": "O60688", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60688" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "22", "chr_pos": "21703377", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W88", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "73", "end_pos": "73" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "O60688-1.73.73", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6U7Q0-1.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "Q6U7Q0-1", "length": 402, "uniprot_id": "ZN322_HUMAN", "protein_name": "Zinc finger protein 322", "refseq_ac": "NP_001229726", "refseq_name": "zinc finger protein 322", "gene_name": "ZNF322", "gene_names_uniprotkb": "ZNF322; ZNF322A; ZNF388; ZNF489", "gene_names_refseq": "HCG12; ZNF322A; ZNF322; ZNF388; ZNF489", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q6U7Q0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6U7Q0" }, { "database": "O-GlcNAc Atlas", "id": "Q6U7Q0", "url": "https://oglcnac.org/atlas/detail/Q6U7Q0" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "crossref": [ { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6U7Q0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6U7Q0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q6U7Q0", "url": "https://oglcnac.org/atlas/detail/Q6U7Q0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q6U7Q0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6U7Q0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NLIRHQATHTHTFKCLEYEK", "down_seq": "FNCSSDLIVHQRIHMEEKPH", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser301", "evidence": [ { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "Q6U7Q0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6U7Q0" }, { "id": "Q6U7Q0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6U7Q0" } ] } ], "snv": [ { "evidence": [ { "id": "Q6U7Q0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6U7Q0" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "6", "chr_pos": "26637651", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S301", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "306", "end_pos": "306" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "391", "end_pos": "391" }, { "start_pos": "396", "end_pos": "396" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6U7Q0-1.303.303", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6U7Q0-1.306.306", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6U7Q0-1.303.303", "start_pos": 303, "end_pos": 303, "uniprot_canonical_ac": "Q6U7Q0-1", "length": 402, "uniprot_id": "ZN322_HUMAN", "protein_name": "Zinc finger protein 322", "refseq_ac": "NP_001229726", "refseq_name": "zinc finger protein 322", "gene_name": "ZNF322", "gene_names_uniprotkb": "ZNF322; ZNF322A; ZNF388; ZNF489", "gene_names_refseq": "HCG12; ZNF322A; ZNF322; ZNF388; ZNF489", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IRHQATHTHTFKCLEYEKSF", "down_seq": "CSSDLIVHQRIHMEEKPHQW", "glycosylation": [ { "glytoucan_ac": "G59324HL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SFNCSSDLIVHQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn303", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "306", "end_pos": "306" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "391", "end_pos": "391" }, { "start_pos": "396", "end_pos": "396" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6U7Q0-1.301.301", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q6U7Q0-1.306.306", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6U7Q0-1.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "Q6U7Q0-1", "length": 402, "uniprot_id": "ZN322_HUMAN", "protein_name": "Zinc finger protein 322", "refseq_ac": "NP_001229726", "refseq_name": "zinc finger protein 322", "gene_name": "ZNF322", "gene_names_uniprotkb": "ZNF322; ZNF322A; ZNF388; ZNF489", "gene_names_refseq": "HCG12; ZNF322A; ZNF322; ZNF388; ZNF489", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q6U7Q0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6U7Q0" }, { "database": "O-GlcNAc Atlas", "id": "Q6U7Q0", "url": "https://oglcnac.org/atlas/detail/Q6U7Q0" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "crossref": [ { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6U7Q0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6U7Q0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q6U7Q0", "url": "https://oglcnac.org/atlas/detail/Q6U7Q0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QATHTHTFKCLEYEKSFNCS", "down_seq": "DLIVHQRIHMEEKPHQWSAC", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser306", "evidence": [ { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "Q6U7Q0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6U7Q0" }, { "id": "Q6U7Q0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6U7Q0" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "306", "end_pos": "306" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "391", "end_pos": "391" }, { "start_pos": "396", "end_pos": "396" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q6U7Q0-1.301.301", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q6U7Q0-1.303.303", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6U7Q0-1.11.11", "start_pos": 11, "end_pos": 11, "uniprot_canonical_ac": "Q6U7Q0-1", "length": 402, "uniprot_id": "ZN322_HUMAN", "protein_name": "Zinc finger protein 322", "refseq_ac": "NP_001229726", "refseq_name": "zinc finger protein 322", "gene_name": "ZNF322", "gene_names_uniprotkb": "ZNF322; ZNF322A; ZNF388; ZNF489", "gene_names_refseq": "HCG12; ZNF322A; ZNF322; ZNF388; ZNF489", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6U7Q0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6U7Q0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MYTSEEKCNQ", "down_seq": "TQKRKIYNVCPRKGKKIFIH", "snv": [ { "evidence": [ { "id": "Q6U7Q0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6U7Q0" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "26638522", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R11", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "306", "end_pos": "306" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "391", "end_pos": "391" }, { "start_pos": "396", "end_pos": "396" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6U7Q0-1.275.275", "start_pos": 275, "end_pos": 275, "uniprot_canonical_ac": "Q6U7Q0-1", "length": 402, "uniprot_id": "ZN322_HUMAN", "protein_name": "Zinc finger protein 322", "refseq_ac": "NP_001229726", "refseq_name": "zinc finger protein 322", "gene_name": "ZNF322", "gene_names_uniprotkb": "ZNF322; ZNF322A; ZNF388; ZNF489", "gene_names_refseq": "HCG12; ZNF322A; ZNF322; ZNF388; ZNF489", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1554147914", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554147914", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1554147914", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1554147914", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IVHQRVHTGEKPYKCLECMR", "down_seq": "FTRSANLIRHQATHTHTFKC", "snv": [ { "evidence": [ { "id": "rs1554147914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554147914" }, { "id": "rs1554147914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1554147914" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFT->NFT).", "chr_id": "6", "chr_pos": "26637730", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S275", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "306", "end_pos": "306" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "391", "end_pos": "391" }, { "start_pos": "396", "end_pos": "396" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6U7Q0-1.391.391", "start_pos": 391, "end_pos": 391, "uniprot_canonical_ac": "Q6U7Q0-1", "length": 402, "uniprot_id": "ZN322_HUMAN", "protein_name": "Zinc finger protein 322", "refseq_ac": "NP_001229726", "refseq_name": "zinc finger protein 322", "gene_name": "ZNF322", "gene_names_uniprotkb": "ZNF322; ZNF322A; ZNF388; ZNF489", "gene_names_refseq": "HCG12; ZNF322A; ZNF322; ZNF388; ZNF489", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "CK1delta/GSK3beta/FBXW7alpha axis promotes degradation of the ZNF322A oncoprotein to suppress lung cancer progression.", "journal": "Oncogene", "date": "2017", "authors": "Liao SY, Chiang CW, Hsu CH, Chen YT, Jen J, Juan HF, Lai WW, Wang YC", "evidence": [ { "database": "RefSeq", "id": "NP_001229726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229726" }, { "database": "iPTMnet", "id": "Q6U7Q0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6U7Q0" } ], "reference": [ { "type": "PubMed", "id": "28581525", "url": "https://glygen.org/publication/PubMed/28581525" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0" }, { "database": "iPTMnet", "id": "Q6U7Q0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6U7Q0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q6U7Q0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6U7Q0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "28581525", "url": "https://glygen.org/publication/PubMed/28581525", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TVHIGEKPFVCNVSEKGLEL", "down_seq": "PPHASEASQMS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P49841-1", "kinase_gene_name": "GSK3B", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6U7Q0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6U7Q0" }, { "database": "PubMed", "id": "28581525", "url": "https://glygen.org/publication/PubMed/28581525" } ], "site_lbl": "Ser391" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q6U7Q0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6U7Q0" }, { "database": "PubMed", "id": "28581525", "url": "https://glygen.org/publication/PubMed/28581525" } ], "site_lbl": "Ser391" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "306", "end_pos": "306" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "391", "end_pos": "391" }, { "start_pos": "396", "end_pos": "396" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q6U7Q0-1.396.396", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6U7Q0-1.396.396", "start_pos": 396, "end_pos": 396, "uniprot_canonical_ac": "Q6U7Q0-1", "length": 402, "uniprot_id": "ZN322_HUMAN", "protein_name": "Zinc finger protein 322", "refseq_ac": "NP_001229726", "refseq_name": "zinc finger protein 322", "gene_name": "ZNF322", "gene_names_uniprotkb": "ZNF322; ZNF322A; ZNF388; ZNF489", "gene_names_refseq": "HCG12; ZNF322A; ZNF322; ZNF388; ZNF489", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6U7Q0", "url": "https://www.uniprot.org/uniprotkb/Q6U7Q0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "CK1delta/GSK3beta/FBXW7alpha axis promotes degradation of the ZNF322A oncoprotein to suppress lung cancer progression.", "journal": "Oncogene", "date": "2017", "authors": "Liao SY, Chiang CW, Hsu CH, Chen YT, Jen J, Juan HF, Lai WW, Wang YC", "evidence": [ { "database": "RefSeq", "id": "NP_001229726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229726" }, { "database": "iPTMnet", "id": "Q6U7Q0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6U7Q0" } ], "reference": [ { "type": "PubMed", "id": "28581525", "url": "https://glygen.org/publication/PubMed/28581525" } ] } ], "crossref": [ { "id": "Q6U7Q0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6U7Q0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "28581525", "url": "https://glygen.org/publication/PubMed/28581525", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EKPFVCNVSEKGLELSPPHA", "down_seq": "EASQMS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P48730-1", "kinase_gene_name": "CSNK1D", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6U7Q0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6U7Q0" }, { "database": "PubMed", "id": "28581525", "url": "https://glygen.org/publication/PubMed/28581525" } ], "site_lbl": "Ser396" }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6U7Q0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6U7Q0" }, { "database": "PubMed", "id": "28581525", "url": "https://glygen.org/publication/PubMed/28581525" } ], "site_lbl": "Ser396" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "306", "end_pos": "306" } ] }, { "type": "snv", "site_list": [ { "start_pos": "11", "end_pos": "11" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "391", "end_pos": "391" }, { "start_pos": "396", "end_pos": "396" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q6U7Q0-1.391.391", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y2T7-1.57.57", "start_pos": 57, "end_pos": 57, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1472446727", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472446727", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1472446727", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1472446727#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1472446727", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472446727", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs530300551", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530300551", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs530300551", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530300551", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs530300551", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530300551#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs530300551", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530300551", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PQKGGGAGGGGGAASGPAAG", "down_seq": "PSAPGSRTPGNPATAVSGTP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr57", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1472446727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472446727" }, { "id": "rs1472446727", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1472446727#frequency_tab" }, { "id": "rs1472446727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472446727" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "17", "chr_pos": "7294332", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T57", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs530300551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530300551" }, { "id": "rs530300551", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530300551" }, { "id": "rs530300551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530300551#frequency_tab" }, { "id": "rs530300551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530300551" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "17", "chr_pos": "7294331", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T57", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs530300551", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530300551" }, { "id": "rs530300551", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530300551" }, { "id": "rs530300551", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530300551#frequency_tab" }, { "id": "rs530300551", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530300551" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "17", "chr_pos": "7294331", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T57", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9Y2T7-1.63.63", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2T7-1.65.65", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2T7-1.76.76", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2T7-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "GlcNAcylation of histone H2B facilitates its monoubiquitination.", "journal": "Nature", "date": "2011", "authors": "Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, Imai Y, Kim J, He HH, Igarashi K, Kanno J, Ohtake F, Kitagawa H, Roeder RG, Brown M, Kato S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y2T7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2T7" } ], "reference": [ { "type": "PubMed", "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y2T7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2T7" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y2T7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2T7" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y2T7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2T7" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y2T7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2T7", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs8069533", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8069533", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs8069533", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs8069533", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs8069533", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8069533", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs8069533", "url": "https://www.ncbi.nlm.nih.gov/snp/rs8069533#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs8069533", "url": "http://gnomad.broadinstitute.org/awesome?query=rs8069533", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AGGGGGAASGPAAGTPSAPG", "down_seq": "RTPGNPATAVSGTPAPPARS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser63", "evidence": [ { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "Q9Y2T7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2T7" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "snv": [ { "evidence": [ { "id": "rs8069533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8069533" }, { "id": "rs8069533", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs8069533" }, { "id": "rs8069533", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8069533" }, { "id": "rs8069533", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs8069533#frequency_tab" }, { "id": "rs8069533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs8069533" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "17", "chr_pos": "7294314", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S63", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9Y2T7-1.57.57", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2T7-1.65.65", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2T7-1.76.76", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y2T7-1.113.113", "start_pos": 113, "end_pos": 113, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1045228817", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045228817", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1045228817", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1045228817#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1045228817", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045228817", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QVLGTVKWFNVRNGYGFINR", "down_seq": "DTKEDVFVHQTAIKRNNPRK", "snv": [ { "evidence": [ { "id": "rs1045228817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045228817" }, { "id": "rs1045228817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1045228817#frequency_tab" }, { "id": "rs1045228817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045228817" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRN->NRS).", "chr_id": "17", "chr_pos": "7292057", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N113", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2T7-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771681443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771681443", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771681443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771681443", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771681443", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771681443#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771681443", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771681443", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TNVTGPGGVPVKGSRYAPNR", "down_seq": "KSRRFIPRPPSVAPPPMVAE", "snv": [ { "evidence": [ { "id": "rs771681443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771681443" }, { "id": "rs771681443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771681443" }, { "id": "rs771681443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771681443#frequency_tab" }, { "id": "rs771681443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771681443" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRR->NRC).", "chr_id": "17", "chr_pos": "7290463", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R178", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2T7-1.231.231", "start_pos": 231, "end_pos": 231, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2T7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2T7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ERAEDSGQRPRRWCPPPFFY", "down_seq": "RRFVRGPRPPNQQQPIEGTD", "snv": [ { "evidence": [ { "id": "Q9Y2T7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2T7" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "7290303", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R231", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9Y2T7-1.238.238", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2T7-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2T7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2T7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QRPRRWCPPPFFYRRRFVRG", "down_seq": "RPPNQQQPIEGTDRVEPKET", "snv": [ { "evidence": [ { "id": "Q9Y2T7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2T7" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "7290283", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P238", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9Y2T7-1.231.231", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2T7-1.323.323", "start_pos": 323, "end_pos": 323, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2143005485", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143005485", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2143005485", "url": "https://www.ensembl.org/id/rs2143005485", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KPSQGPADGSRPEPQRPRNR", "down_seq": "YFQRRRQQAPGPQQAPGPRQ", "snv": [ { "evidence": [ { "id": "rs2143005485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143005485" }, { "id": "rs2143005485", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143005485" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "17", "chr_pos": "7289607", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P323", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2T7-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2T7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2T7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PGPRQPAAPETSAPVNSGDP", "down_seq": "TTILE", "snv": [ { "evidence": [ { "id": "Q9Y2T7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2T7" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "17", "chr_pos": "7288807", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T359", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2T7-1.65.65", "start_pos": 65, "end_pos": 65, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GGGGAASGPAAGTPSAPGSR", "down_seq": "PGNPATAVSGTPAPPARSQA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "site_lbl": "Thr65" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9Y2T7-1.57.57", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2T7-1.63.63", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2T7-1.76.76", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2T7-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "Q9Y2T7-1", "length": 364, "uniprot_id": "YBOX2_HUMAN", "protein_name": "Y-box-binding protein 2", "refseq_ac": "NP_057066", "refseq_name": "Y-box-binding protein 2", "gene_name": "YBX2", "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GTPSAPGSRTPGNPATAVSG", "down_seq": "PAPPARSQADKPVLAIQVLG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2T7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2T7" } ], "site_lbl": "Thr76" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "snv", "site_list": [ { "start_pos": "113", "end_pos": "113" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "63", "end_pos": "63" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "65", "end_pos": "65" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2T7-1.57.57", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2T7-1.63.63", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2T7-1.65.65", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.1328.1328", "start_pos": 1328, "end_pos": 1328, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "crossref": [ { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EPLEVSEWNKNSSKDVKIPD", "down_seq": "LQDQLNEQQKRQPLSVSDRH", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1328", "evidence": [ { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "Q86UP3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86UP3-1.1809.1809", "start_pos": 1809, "end_pos": 1809, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "crossref": [ { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LKQEQSNIVSADCQIMKDVP", "down_seq": "YKEAEDISEKPEKPKQEFIS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1809", "evidence": [ { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "Q86UP3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86UP3-1.1975.1975", "start_pos": 1975, "end_pos": 1975, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "crossref": [ { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PETPPPPPPPPPLPPAPPQP", "down_seq": "SMGPVKIPNTVSTPLQAPPP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1975", "evidence": [ { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "Q86UP3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "Q86UP3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86UP3-1.1996.1996", "start_pos": 1996, "end_pos": 1996, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SMGPVKIPNTVSTPLQAPPP", "down_seq": "PPPPPPPPPPPPPPPPPPPP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1996", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.2712.2712", "start_pos": 2712, "end_pos": 2712, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "crossref": [ { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LTKIDLSSENELASTVSTPV", "down_seq": "KTAELSPKNLLSPSSFKAEC", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2712", "evidence": [ { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "Q86UP3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "Q86UP3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86UP3-1.600.600", "start_pos": 600, "end_pos": 600, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs777208567", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777208567", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777208567", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777208567", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777208567", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777208567#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs777208567", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777208567", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GDEDSSATPHQHGFTPSTPG", "down_seq": "PGPGGDGSPGSGIECPKCDT", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr600", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs777208567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777208567" }, { "id": "rs777208567", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777208567" }, { "id": "rs777208567", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777208567#frequency_tab" }, { "id": "rs777208567", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777208567" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "8", "chr_pos": "76705887", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T600", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q86UP3-1.583.583", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q86UP3-1.609.609", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q86UP3-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q86UP3-1.619.619", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.938.938", "start_pos": 938, "end_pos": 938, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "database": "O-GlcNAc Atlas", "id": "Q86UP3", "url": "https://oglcnac.org/atlas/detail/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "crossref": [ { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86UP3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QCKLCNYNTQLKANFQLHCK", "down_seq": "DKHMQKYQLVAHIKEGGKSN", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr938", "evidence": [ { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "Q86UP3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86UP3" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86UP3-1.104.104", "start_pos": 104, "end_pos": 104, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs773826101", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773826101", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773826101", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773826101", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773826101", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773826101#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773826101", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773826101", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs773826101", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773826101", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ECATSFPSLQKYMEHHCPNA", "down_seq": "LPVLKDDNESEISELEDSDV", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" }, { "id": "rs773826101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773826101" }, { "id": "rs773826101", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773826101" }, { "id": "rs773826101", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773826101#frequency_tab" }, { "id": "rs773826101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773826101" }, { "id": "rs773826101", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773826101" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAR->NAC).", "chr_id": "8", "chr_pos": "76704398", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R104", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" }, { "id": "rs773826101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773826101" }, { "id": "rs773826101", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773826101" }, { "id": "rs773826101", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773826101#frequency_tab" }, { "id": "rs773826101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773826101" }, { "id": "rs773826101", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773826101" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAR->NAS).", "chr_id": "8", "chr_pos": "76704398", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R104", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q86UP3-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q86UP3-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q86UP3-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q86UP3-1.118.118", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.1135.1135", "start_pos": 1135, "end_pos": 1135, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1242895199", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1242895199", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1242895199", "url": "https://www.ensembl.org/id/rs1242895199", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DDEKDTSERDNSEGKNSNKD", "down_seq": "VSVAGGTQPLLLAKEEDVAT", "snv": [ { "evidence": [ { "id": "rs1242895199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1242895199" }, { "id": "rs1242895199", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1242895199" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "8", "chr_pos": "76842742", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1135", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.115.115", "start_pos": 115, "end_pos": 115, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YMEHHCPNARLPVLKDDNES", "down_seq": "ISELEDSDVENLTGEIVYQP", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "76704431", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E115", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q86UP3-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q86UP3-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q86UP3-1.118.118", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.118.118", "start_pos": 118, "end_pos": 118, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "HHCPNARLPVLKDDNESEIS", "down_seq": "LEDSDVENLTGEIVYQPDGS", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "76704440", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E118", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q86UP3-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q86UP3-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q86UP3-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q86UP3-1.136.136", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.136.136", "start_pos": 136, "end_pos": 136, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ISELEDSDVENLTGEIVYQP", "down_seq": "GSAYIIEDSKESGQNAQTGA", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "8", "chr_pos": "76704494", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D136", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q86UP3-1.118.118", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q86UP3-1.146.146", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NLTGEIVYQPDGSAYIIEDS", "down_seq": "ESGQNAQTGANSKLFSTAMF", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "8", "chr_pos": "76704526", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K146", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q86UP3-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q86UP3-1.159.159", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.1560.1560", "start_pos": 1560, "end_pos": 1560, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs372765924", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372765924", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372765924", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372765924", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372765924", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372765924#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372765924", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372765924", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NSNTDNKPYKCSICNVAYSQ", "down_seq": "STLEIHMRSVLHQTKARAAK", "snv": [ { "evidence": [ { "id": "rs372765924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372765924" }, { "id": "rs372765924", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372765924" }, { "id": "rs372765924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372765924#frequency_tab" }, { "id": "rs372765924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372765924" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "8", "chr_pos": "76851678", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1560", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.159.159", "start_pos": 159, "end_pos": 159, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs770485449", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770485449", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770485449", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770485449", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770485449", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770485449#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs770485449", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770485449", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs770485449", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770485449", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "AYIIEDSKESGQNAQTGANS", "down_seq": "LFSTAMFLDSLASAGEKSDQ", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" }, { "id": "rs770485449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770485449" }, { "id": "rs770485449", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770485449" }, { "id": "rs770485449", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770485449#frequency_tab" }, { "id": "rs770485449", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770485449" }, { "id": "rs770485449", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs770485449" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSK->NST).", "chr_id": "8", "chr_pos": "76704564", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K159", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q86UP3-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q86UP3-1.178.178", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SKLFSTAMFLDSLASAGEKS", "down_seq": "QSASAPMSFYPQIINTFHIA", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DQS->NQS).", "chr_id": "8", "chr_pos": "76704620", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D178", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q86UP3-1.159.159", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SAPMSFYPQIINTFHIASSL", "down_seq": "KPFTADQAFPNTSALAGVGP", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76704692", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G202", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.2185.2185", "start_pos": 2185, "end_pos": 2185, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PQPTSLEHYKSDASFSKRSS", "down_seq": "TRFTDYQLRVLQDFFDTNAY", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "8", "chr_pos": "76853474", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2185", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.228.228", "start_pos": 228, "end_pos": 228, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DQAFPNTSALAGVGPVLHSF", "down_seq": "VYDLRHKREKDYLTSDGSAK", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "76704770", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R228", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q86UP3-1.233.233", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.233.233", "start_pos": 233, "end_pos": 233, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NTSALAGVGPVLHSFRVYDL", "down_seq": "HKREKDYLTSDGSAKNSCVS", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76704785", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R233", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q86UP3-1.228.228", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.2389.2389", "start_pos": 2389, "end_pos": 2389, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KQSDPSPPSQGTKPALPLAS", "down_seq": "SSDPPQASTAQPQPQPQPPK", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "8", "chr_pos": "76854087", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T2389", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.261.261", "start_pos": 261, "end_pos": 261, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LTSDGSAKNSCVSKDVPNNV", "down_seq": "LSKFDGCVSDGKRKPVLMCF", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "8", "chr_pos": "76704869", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D261", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q86UP3-1.266.266", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.266.266", "start_pos": 266, "end_pos": 266, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SAKNSCVSKDVPNNVDLSKF", "down_seq": "GCVSDGKRKPVLMCFLCKLS", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGC->NGC).", "chr_id": "8", "chr_pos": "76704884", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D266", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q86UP3-1.261.261", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.2808.2808", "start_pos": 2808, "end_pos": 2808, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VKPALSPKEPKTLDTLPKPA", "down_seq": "TPTTEVCDDKFLFSLTSPSI", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76855344", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T2808", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.2926.2926", "start_pos": 2926, "end_pos": 2926, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YRTPTMQECEMLGNEIGLPK", "down_seq": "VVQVWFQNARAKEKKFKINI", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76855697", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R2926", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.2970.2970", "start_pos": 2970, "end_pos": 2970, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FMINQGGTEGTKPECTLCGV", "down_seq": "YSARLSIRDHIFSKQHISKV", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "8", "chr_pos": "76855831", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K2970", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "M", "down_seq": "TCDSPPISRQENGQSTSKLC", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "8", "chr_pos": "76704092", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E2", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.3125.3125", "start_pos": 3125, "end_pos": 3125, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1222728797", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1222728797", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1222728797", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1222728797", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PTKPLLQTPPPPPPPPPPPP", "down_seq": "SSLSGQQTEQQNKESEKKQT", "snv": [ { "evidence": [ { "id": "rs1222728797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1222728797" }, { "id": "rs1222728797", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1222728797" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "8", "chr_pos": "76863166", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3125", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.3172.3172", "start_pos": 3172, "end_pos": 3172, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs546306466", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546306466", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs546306466", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs546306466", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs546306466", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546306466", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs546306466", "url": "http://gnomad.broadinstitute.org/awesome?query=rs546306466", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KIKEEELEATKPEKHPKKEE", "down_seq": "ISSALSVLGKVVGETHVDPI", "snv": [ { "evidence": [ { "id": "rs546306466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546306466" }, { "id": "rs546306466", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs546306466" }, { "id": "rs546306466", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546306466" }, { "id": "rs546306466", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs546306466" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "8", "chr_pos": "76863308", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "K3172", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VHDHRMTLNDEEQKLLSNKC", "down_seq": "SAIIQGIGKDKEPLISFLEP", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705040", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V318", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q86UP3-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q86UP3-1.320.320", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HDHRMTLNDEEQKLLSNKCV", "down_seq": "AIIQGIGKDKEPLISFLEPK", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705044", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S319", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q86UP3-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q86UP3-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q86UP3-1.339.339", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DHRMTLNDEEQKLLSNKCVS", "down_seq": "IIQGIGKDKEPLISFLEPKK", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "76705046", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A320", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q86UP3-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q86UP3-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q86UP3-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q86UP3-1.340.340", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.339.339", "start_pos": 339, "end_pos": 339, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SAIIQGIGKDKEPLISFLEP", "down_seq": "KSTSVYPHFSTTNLIGPDPT", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "8", "chr_pos": "76705105", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K339", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q86UP3-1.319.319", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q86UP3-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q86UP3-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q86UP3-1.354.354", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "AIIQGIGKDKEPLISFLEPK", "down_seq": "STSVYPHFSTTNLIGPDPTF", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "8", "chr_pos": "76705108", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K340", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q86UP3-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q86UP3-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q86UP3-1.354.354", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NGQSTSKLCGTTQLDNEVPE", "down_seq": "VAGMEPDRENSSTDDNLKTD", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76704190", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K34", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q86UP3-1.45.45", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs969040934", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs969040934", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs969040934", "url": "https://www.ncbi.nlm.nih.gov/snp/rs969040934#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs969040934", "url": "http://gnomad.broadinstitute.org/awesome?query=rs969040934", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs969040934", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs969040934", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SFLEPKKSTSVYPHFSTTNL", "down_seq": "GPDPTFRGLWSAFHVENGDS", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" }, { "id": "rs969040934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs969040934" }, { "id": "rs969040934", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs969040934#frequency_tab" }, { "id": "rs969040934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs969040934" }, { "id": "rs969040934", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs969040934" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "8", "chr_pos": "76705149", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I354", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q86UP3-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q86UP3-1.340.340", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.386.386", "start_pos": 386, "end_pos": 386, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "AFHVENGDSLPAGFAFLKGS", "down_seq": "STSSSAEQPLGITQMPKAEV", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705245", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A386", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q86UP3-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q86UP3-1.393.393", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.388.388", "start_pos": 388, "end_pos": 388, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746216359", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746216359", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746216359", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746216359", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746216359", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746216359", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HVENGDSLPAGFAFLKGSAS", "down_seq": "SSSAEQPLGITQMPKAEVNL", "snv": [ { "evidence": [ { "id": "rs746216359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746216359" }, { "id": "rs746216359", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746216359" }, { "id": "rs746216359", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746216359" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "8", "chr_pos": "76705251", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T388", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q86UP3-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q86UP3-1.393.393", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.393.393", "start_pos": 393, "end_pos": 393, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "DSLPAGFAFLKGSASTSSSA", "down_seq": "QPLGITQMPKAEVNLGGLSS", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705265", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E393", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q86UP3-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q86UP3-1.388.388", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.419.419", "start_pos": 419, "end_pos": 419, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1808227078", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1808227078", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1808227078", "url": "https://www.ensembl.org/id/rs1808227078", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TQMPKAEVNLGGLSSLVVNT", "down_seq": "ITSVSLSHSSSESSKMSESK", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" }, { "id": "rs1808227078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1808227078" }, { "id": "rs1808227078", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1808227078" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "8", "chr_pos": "76705343", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P419", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q86UP3-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q86UP3-1.434.434", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs372128559", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372128559", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372128559", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372128559", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372128559", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372128559", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs372128559", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372128559", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VNLGGLSSLVVNTPITSVSL", "down_seq": "HSSSESSKMSESKDQENNCE", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" }, { "id": "rs372128559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372128559" }, { "id": "rs372128559", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372128559" }, { "id": "rs372128559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372128559" }, { "id": "rs372128559", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372128559" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "8", "chr_pos": "76705365", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S426", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q86UP3-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q86UP3-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q86UP3-1.442.442", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.434.434", "start_pos": 434, "end_pos": 434, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs952282958", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs952282958", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs952282958", "url": "https://www.ncbi.nlm.nih.gov/snp/rs952282958#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LVVNTPITSVSLSHSSSESS", "down_seq": "MSESKDQENNCERPKESNVL", "snv": [ { "evidence": [ { "id": "rs952282958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs952282958" }, { "id": "rs952282958", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs952282958#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "8", "chr_pos": "76705390", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K434", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q86UP3-1.419.419", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q86UP3-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q86UP3-1.442.442", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q86UP3-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q86UP3-1.454.454", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.442.442", "start_pos": 442, "end_pos": 442, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SVSLSHSSSESSKMSESKDQ", "down_seq": "NNCERPKESNVLHPNGECPV", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705414", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E442", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q86UP3-1.426.426", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q86UP3-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q86UP3-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q86UP3-1.454.454", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q86UP3-1.458.458", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.452.452", "start_pos": 452, "end_pos": 452, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SSKMSESKDQENNCERPKES", "down_seq": "VLHPNGECPVKSEPTEPGDE", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705444", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N452", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q86UP3-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q86UP3-1.442.442", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q86UP3-1.454.454", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q86UP3-1.458.458", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.454.454", "start_pos": 454, "end_pos": 454, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774264066", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774264066", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774264066", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774264066", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774264066", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774264066", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KMSESKDQENNCERPKESNV", "down_seq": "HPNGECPVKSEPTEPGDEDE", "snv": [ { "evidence": [ { "id": "rs774264066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774264066" }, { "id": "rs774264066", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774264066" }, { "id": "rs774264066", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774264066" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVL->NVS).", "chr_id": "8", "chr_pos": "76705449", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L454", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q86UP3-1.434.434", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q86UP3-1.442.442", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q86UP3-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q86UP3-1.458.458", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.458.458", "start_pos": 458, "end_pos": 458, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SKDQENNCERPKESNVLHPN", "down_seq": "ECPVKSEPTEPGDEDEEDAY", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705460", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G458", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q86UP3-1.442.442", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q86UP3-1.452.452", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q86UP3-1.454.454", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1028773675", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1028773675", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1028773675", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1028773675#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1028773675", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1028773675", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TQLDNEVPEKVAGMEPDREN", "down_seq": "STDDNLKTDERKSEALLGFS", "snv": [ { "evidence": [ { "id": "rs1028773675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1028773675" }, { "id": "rs1028773675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1028773675#frequency_tab" }, { "id": "rs1028773675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1028773675" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "8", "chr_pos": "76704222", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S45", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q86UP3-1.34.34", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.511.511", "start_pos": 511, "end_pos": 511, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LTDSIGNKDFPLLNQSISPL", "down_seq": "SSVLKFIEKGTSSSSATVSD", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705620", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S511", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q86UP3-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q86UP3-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q86UP3-1.531.531", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.522.522", "start_pos": 522, "end_pos": 522, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs753183710", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753183710", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753183710", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753183710", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753183710", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753183710#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753183710", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753183710", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs753183710", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753183710", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LLNQSISPLSSSVLKFIEKG", "down_seq": "SSSSATVSDDTEKKKQTAAV", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" }, { "id": "rs753183710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753183710" }, { "id": "rs753183710", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753183710" }, { "id": "rs753183710", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753183710#frequency_tab" }, { "id": "rs753183710", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753183710" }, { "id": "rs753183710", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753183710" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "8", "chr_pos": "76705653", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T522", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q86UP3-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q86UP3-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q86UP3-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q86UP3-1.537.537", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.523.523", "start_pos": 523, "end_pos": 523, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LNQSISPLSSSVLKFIEKGT", "down_seq": "SSSATVSDDTEKKKQTAAVR", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705656", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S523", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q86UP3-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q86UP3-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q86UP3-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q86UP3-1.537.537", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.531.531", "start_pos": 531, "end_pos": 531, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SSSVLKFIEKGTSSSSATVS", "down_seq": "DTEKKKQTAAVRASGSVASN", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "8", "chr_pos": "76705679", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D531", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q86UP3-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q86UP3-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q86UP3-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q86UP3-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q86UP3-1.545.545", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.537.537", "start_pos": 537, "end_pos": 537, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768355160", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768355160", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768355160", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768355160", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768355160", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768355160", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FIEKGTSSSSATVSDDTEKK", "down_seq": "QTAAVRASGSVASNYGISGK", "snv": [ { "evidence": [ { "id": "rs768355160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768355160" }, { "id": "rs768355160", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768355160" }, { "id": "rs768355160", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768355160" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQT->NQT).", "chr_id": "8", "chr_pos": "76705699", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K537", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q86UP3-1.522.522", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q86UP3-1.523.523", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q86UP3-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q86UP3-1.545.545", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q86UP3-1.553.553", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.545.545", "start_pos": 545, "end_pos": 545, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759687521", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759687521", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759687521", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759687521", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759687521", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759687521#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759687521", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759687521", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSATVSDDTEKKKQTAAVRA", "down_seq": "GSVASNYGISGKDFADASAS", "snv": [ { "evidence": [ { "id": "rs759687521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759687521" }, { "id": "rs759687521", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759687521" }, { "id": "rs759687521", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759687521#frequency_tab" }, { "id": "rs759687521", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759687521" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "8", "chr_pos": "76705722", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S545", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q86UP3-1.531.531", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q86UP3-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q86UP3-1.553.553", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q86UP3-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q86UP3-1.563.563", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.553.553", "start_pos": 553, "end_pos": 553, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1478614606", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478614606", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1478614606", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478614606", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "TEKKKQTAAVRASGSVASNY", "down_seq": "ISGKDFADASASKDSATAAH", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NYG->NYC).", "chr_id": "8", "chr_pos": "76705745", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G553", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1478614606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478614606" }, { "id": "rs1478614606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478614606" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYG->NYS).", "chr_id": "8", "chr_pos": "76705745", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G553", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q86UP3-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q86UP3-1.545.545", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q86UP3-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q86UP3-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q86UP3-1.568.568", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.561.561", "start_pos": 561, "end_pos": 561, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AVRASGSVASNYGISGKDFA", "down_seq": "ASASKDSATAAHPSEIARGD", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "8", "chr_pos": "76705769", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D561", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q86UP3-1.545.545", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q86UP3-1.553.553", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q86UP3-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q86UP3-1.568.568", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.563.563", "start_pos": 563, "end_pos": 563, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1276402538", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276402538", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1276402538", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276402538", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RASGSVASNYGISGKDFADA", "down_seq": "ASKDSATAAHPSEIARGDED", "snv": [ { "evidence": [ { "id": "rs1276402538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276402538" }, { "id": "rs1276402538", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276402538" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "8", "chr_pos": "76705776", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S563", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q86UP3-1.545.545", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q86UP3-1.553.553", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q86UP3-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q86UP3-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q86UP3-1.583.583", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.568.568", "start_pos": 568, "end_pos": 568, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1808245668", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1808245668", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1808245668", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1808245668#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VASNYGISGKDFADASASKD", "down_seq": "ATAAHPSEIARGDEDSSATP", "snv": [ { "evidence": [ { "id": "rs1808245668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1808245668" }, { "id": "rs1808245668", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1808245668#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAT->NAT).", "chr_id": "8", "chr_pos": "76705791", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S568", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q86UP3-1.553.553", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q86UP3-1.561.561", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q86UP3-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q86UP3-1.583.583", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.583.583", "start_pos": 583, "end_pos": 583, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SASKDSATAAHPSEIARGDE", "down_seq": "SSATPHQHGFTPSTPGTPGP", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "8", "chr_pos": "76705835", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D583", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q86UP3-1.563.563", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q86UP3-1.568.568", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q86UP3-1.600.600", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.609.609", "start_pos": 609, "end_pos": 609, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "HQHGFTPSTPGTPGPGGDGS", "down_seq": "GSGIECPKCDTVLGSSRSLG", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "76705914", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P609", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q86UP3-1.600.600", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q86UP3-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q86UP3-1.619.619", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q86UP3-1.625.625", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.613.613", "start_pos": 613, "end_pos": 613, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764023030", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764023030", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764023030", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764023030", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764023030", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764023030#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764023030", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764023030", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FTPSTPGTPGPGGDGSPGSG", "down_seq": "ECPKCDTVLGSSRSLGGHMT", "snv": [ { "evidence": [ { "id": "rs764023030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764023030" }, { "id": "rs764023030", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764023030" }, { "id": "rs764023030", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764023030#frequency_tab" }, { "id": "rs764023030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764023030" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IEC->NEC).", "chr_id": "8", "chr_pos": "76705926", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I613", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q86UP3-1.600.600", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q86UP3-1.609.609", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q86UP3-1.619.619", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q86UP3-1.625.625", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.619.619", "start_pos": 619, "end_pos": 619, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GTPGPGGDGSPGSGIECPKC", "down_seq": "TVLGSSRSLGGHMTMMHSRN", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76705943", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D619", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q86UP3-1.600.600", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q86UP3-1.609.609", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q86UP3-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q86UP3-1.625.625", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.625.625", "start_pos": 625, "end_pos": 625, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GDGSPGSGIECPKCDTVLGS", "down_seq": "RSLGGHMTMMHSRNSCKTLK", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "76705962", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S625", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q86UP3-1.609.609", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q86UP3-1.613.613", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q86UP3-1.619.619", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.670.670", "start_pos": 670, "end_pos": 670, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NWHYKYQQTLEAHMKEKHPE", "down_seq": "GGSCVYCKTGQPHPRLARGE", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "76706097", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P670", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q86UP3-1.689.689", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.689.689", "start_pos": 689, "end_pos": 689, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "EPGGSCVYCKTGQPHPRLAR", "down_seq": "ESYTCGYKPFRCEVCNYSTT", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "8", "chr_pos": "76706153", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G689", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q86UP3-1.670.670", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q86UP3-1.700.700", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.700.700", "start_pos": 700, "end_pos": 700, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GQPHPRLARGESYTCGYKPF", "down_seq": "CEVCNYSTTTKGNLSIHMQS", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76706186", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R700", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q86UP3-1.689.689", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.754.754", "start_pos": 754, "end_pos": 754, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NGEQVFGHSAPAPNTSLSGC", "down_seq": "TPSPSKPKQKPTWRCEVCDY", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76706348", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G754", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q86UP3-1.758.758", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.758.758", "start_pos": 758, "end_pos": 758, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VFGHSAPAPNTSLSGCGTPS", "down_seq": "SKPKQKPTWRCEVCDYETNV", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76706361", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P758", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q86UP3-1.754.754", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.779.779", "start_pos": 779, "end_pos": 779, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs753826139", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753826139", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753826139", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753826139", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753826139", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753826139#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753826139", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753826139", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs753826139", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753826139", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SKPKQKPTWRCEVCDYETNV", "down_seq": "RNLRIHMTSEKHMHNMMLLQ", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" }, { "id": "rs753826139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753826139" }, { "id": "rs753826139", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753826139" }, { "id": "rs753826139", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753826139#frequency_tab" }, { "id": "rs753826139", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753826139" }, { "id": "rs753826139", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753826139" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVS).", "chr_id": "8", "chr_pos": "76706423", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A779", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs753826139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753826139" }, { "id": "rs753826139", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753826139" }, { "id": "rs753826139", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753826139#frequency_tab" }, { "id": "rs753826139", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753826139" }, { "id": "rs753826139", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753826139" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "8", "chr_pos": "76706423", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A779", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q86UP3-1.783.783", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q86UP3-1.796.796", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.783.783", "start_pos": 783, "end_pos": 783, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QKPTWRCEVCDYETNVARNL", "down_seq": "IHMTSEKHMHNMMLLQQNMK", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76706436", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R783", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q86UP3-1.779.779", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q86UP3-1.796.796", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q86UP3-1.802.802", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.796.796", "start_pos": 796, "end_pos": 796, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1808275735", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1808275735", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1808275735", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1808275735#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "TNVARNLRIHMTSEKHMHNM", "down_seq": "LLQQNMKQIQHNLHLGLAPA", "snv": [ { "evidence": [ { "id": "rs1808275735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1808275735" }, { "id": "rs1808275735", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1808275735#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMM->NMT).", "chr_id": "8", "chr_pos": "76706475", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M796", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q86UP3-1.779.779", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q86UP3-1.783.783", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q86UP3-1.802.802", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.802.802", "start_pos": 802, "end_pos": 802, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "LRIHMTSEKHMHNMMLLQQN", "down_seq": "KQIQHNLHLGLAPAEAELYQ", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76706494", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M802", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q86UP3-1.783.783", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q86UP3-1.796.796", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.830.830", "start_pos": 830, "end_pos": 830, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "HLGLAPAEAELYQYYLAQNI", "down_seq": "LTGMKLENPADPQLMINPFQ", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIG->NIC).", "chr_id": "8", "chr_pos": "76706576", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G830", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.854.854", "start_pos": 854, "end_pos": 854, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MKLENPADPQLMINPFQLDP", "down_seq": "TAAALAPGLGELSPYISDPA", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "76706649", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A854", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VENAAATQVTSAKEIPCNEC", "down_seq": "TSFPSLQKYMEHHCPNARLP", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "8", "chr_pos": "76704345", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A86", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q86UP3-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q86UP3-1.104.104", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q86UP3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "KEIPCNECATSFPSLQKYME", "down_seq": "HCPNARLPVLKDDNESEISE", "snv": [ { "evidence": [ { "id": "Q86UP3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86UP3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HHC->NHC).", "chr_id": "8", "chr_pos": "76704380", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H98", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q86UP3-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q86UP3-1.104.104", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q86UP3-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q86UP3-1.118.118", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.991.991", "start_pos": 991, "end_pos": 991, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1370539096", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370539096", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1370539096", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370539096", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VHLKCNACDYYTNSVDKLRL", "down_seq": "TTNHRHEAALKLYKHLQKQE", "snv": [ { "evidence": [ { "id": "rs1370539096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370539096" }, { "id": "rs1370539096", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370539096" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HTT->NTT).", "chr_id": "8", "chr_pos": "76708004", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H991", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q86UP3-1.2663.2663", "start_pos": 2663, "end_pos": 2663, "uniprot_canonical_ac": "Q86UP3-1", "length": 3567, "uniprot_id": "ZFHX4_HUMAN", "protein_name": "Zinc finger homeobox protein 4", "refseq_ac": "NP_078997", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "gene_name": "ZFHX4", "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" }, { "database": "iPTMnet", "id": "Q86UP3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86UP3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q86UP3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86UP3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SALESHIRSRHWNEGKQAGY", "down_seq": "LPPSPLISTEDGGESPQKYI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q86UP3", "url": "https://www.uniprot.org/uniprotkb/Q86UP3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q86UP3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q86UP3" } ], "site_lbl": "Ser2663" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1809", "end_pos": "1809" }, { "start_pos": "1975", "end_pos": "1975" }, { "start_pos": "1996", "end_pos": "1996" }, { "start_pos": "2712", "end_pos": "2712" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "938", "end_pos": "938" } ] }, { "type": "snv", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "1135", "end_pos": "1135" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "118", "end_pos": "118" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "159", "end_pos": "159" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "2185", "end_pos": "2185" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "2389", "end_pos": "2389" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "2808", "end_pos": "2808" }, { "start_pos": "2926", "end_pos": "2926" }, { "start_pos": "2970", "end_pos": "2970" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "3125", "end_pos": "3125" }, { "start_pos": "3172", "end_pos": "3172" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "388", "end_pos": "388" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "434", "end_pos": "434" }, { "start_pos": "442", "end_pos": "442" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "454", "end_pos": "454" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "522", "end_pos": "522" }, { "start_pos": "523", "end_pos": "523" }, { "start_pos": "531", "end_pos": "531" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "553", "end_pos": "553" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "563", "end_pos": "563" }, { "start_pos": "568", "end_pos": "568" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "600", "end_pos": "600" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "619", "end_pos": "619" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "670", "end_pos": "670" }, { "start_pos": "689", "end_pos": "689" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "754", "end_pos": "754" }, { "start_pos": "758", "end_pos": "758" }, { "start_pos": "779", "end_pos": "779" }, { "start_pos": "783", "end_pos": "783" }, { "start_pos": "796", "end_pos": "796" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "830", "end_pos": "830" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "991", "end_pos": "991" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "2663", "end_pos": "2663" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96RE9-1.541.541", "start_pos": 541, "end_pos": 541, "uniprot_canonical_ac": "Q96RE9-1", "length": 604, "uniprot_id": "ZN300_HUMAN", "protein_name": "Zinc finger protein 300", "refseq_ac": "NP_001166302", "refseq_name": "zinc finger protein 300 isoform 1", "gene_name": "ZNF300", "gene_names_uniprotkb": "ZNF300", "gene_names_refseq": "ZNF300", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96RE9", "url": "https://www.uniprot.org/uniprotkb/Q96RE9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96RE9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96RE9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YICTECGKAFSQKSHLPGHQ", "down_seq": "IHTGEKPYICAECGKAFSQK", "snv": [ { "evidence": [ { "id": "Q96RE9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96RE9" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "150895617", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R541", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1093.1093", "start_pos": 1093, "end_pos": 1093, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TICGTMFDFFTHMHNKKHTQ", "down_seq": "LDPYNRPWASKTQSEAKQDA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1093", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.1100.1100", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1292.1292", "start_pos": 1292, "end_pos": 1292, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs10948072", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs10948072", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs10948072", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs10948072", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs10948072", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs10948072", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs10948072", "url": "https://www.ncbi.nlm.nih.gov/snp/rs10948072#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs10948072", "url": "http://gnomad.broadinstitute.org/awesome?query=rs10948072", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SFGKFSWKKPEKEEEKSSLV", "down_seq": "PSISKEEILESSKDKEDGKT", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1292", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" }, { "id": "rs10948072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs10948072" }, { "id": "rs10948072", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs10948072" }, { "id": "rs10948072", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs10948072" }, { "id": "rs10948072", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs10948072#frequency_tab" }, { "id": "rs10948072", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs10948072" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "43340123", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1292", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr1292" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q5VUA4-1.1289.1289", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.1294.1294", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5VUA4-1.1296.1296", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5VUA4-1.1304.1304", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1328.1328", "start_pos": 1328, "end_pos": 1328, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs113248806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113248806", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs113248806", "url": "https://www.ncbi.nlm.nih.gov/snp/rs113248806#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs113248806", "url": "http://gnomad.broadinstitute.org/awesome?query=rs113248806", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EDGKTEAGKAKPIKIKLSGK", "down_seq": "VVAHTSPWMPVVTTSTQTKI", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1328", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs113248806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113248806" }, { "id": "rs113248806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs113248806#frequency_tab" }, { "id": "rs113248806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs113248806" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "43340015", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1328", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q5VUA4-1.1333.1333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5VUA4-1.1334.1334", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5VUA4-1.1341.1341", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5VUA4-1.1342.1342", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5VUA4-1.1343.1343", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1333.1333", "start_pos": 1333, "end_pos": 1333, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1581638731", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1581638731", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1581638731", "url": "https://www.ensembl.org/id/rs1581638731", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EAGKAKPIKIKLSGKTVVAH", "down_seq": "SPWMPVVTTSTQTKIRPNLP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1333", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "snv": [ { "evidence": [ { "id": "rs1581638731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1581638731" }, { "id": "rs1581638731", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1581638731" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "43340001", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1581638731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1581638731" }, { "id": "rs1581638731", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1581638731" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "6", "chr_pos": "43340001", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1333", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q5VUA4-1.1328.1328", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.1334.1334", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.1341.1341", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5VUA4-1.1342.1342", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5VUA4-1.1343.1343", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5VUA4-1.1353.1353", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 18 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1334.1334", "start_pos": 1334, "end_pos": 1334, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AGKAKPIKIKLSGKTVVAHT", "down_seq": "PWMPVVTTSTQTKIRPNLPI", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1334", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q5VUA4-1.1328.1328", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.1333.1333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.1341.1341", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.1342.1342", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5VUA4-1.1343.1343", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5VUA4-1.1353.1353", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1341.1341", "start_pos": 1341, "end_pos": 1341, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KIKLSGKTVVAHTSPWMPVV", "down_seq": "TSTQTKIRPNLPIPSTVLRK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1341", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5VUA4-1.1328.1328", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.1333.1333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.1334.1334", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.1342.1342", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.1343.1343", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5VUA4-1.1353.1353", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5VUA4-1.1361.1361", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 18 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1342.1342", "start_pos": 1342, "end_pos": 1342, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "O-GlcNAcylation of Raptor transduces glucose signals to mTORC1.", "journal": "Molecular cell", "date": "2023-08-17", "authors": "Xu Chenchen, Pan Xiaoqing, Wang Dong, Guan Yuanyuan, Yang Wenyu, Chen Xing, Liu Ying", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs530598264", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530598264", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs530598264", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530598264", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs530598264", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530598264", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs530598264", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530598264#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs530598264", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530598264", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1365581865", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365581865", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1365581865", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1365581865#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1365581865", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365581865", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IKLSGKTVVAHTSPWMPVVT", "down_seq": "STQTKIRPNLPIPSTVLRKS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1342", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "snv": [ { "evidence": [ { "id": "rs530598264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530598264" }, { "id": "rs530598264", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530598264" }, { "id": "rs530598264", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530598264" }, { "id": "rs530598264", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530598264#frequency_tab" }, { "id": "rs530598264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530598264" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TST->NST); o-glyco-site-loss (T->N).", "chr_id": "6", "chr_pos": "43339973", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T1342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" }, { "id": "rs1365581865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365581865" }, { "id": "rs1365581865", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1365581865#frequency_tab" }, { "id": "rs1365581865", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365581865" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "43339974", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T1342", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs530598264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530598264" }, { "id": "rs530598264", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530598264" }, { "id": "rs530598264", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530598264" }, { "id": "rs530598264", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs530598264#frequency_tab" }, { "id": "rs530598264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530598264" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "43339973", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T1342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1365581865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365581865" }, { "id": "rs1365581865", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1365581865#frequency_tab" }, { "id": "rs1365581865", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365581865" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "6", "chr_pos": "43339974", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1342", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5VUA4-1.1328.1328", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q5VUA4-1.1333.1333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.1334.1334", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.1341.1341", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.1343.1343", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.1353.1353", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5VUA4-1.1361.1361", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 3 } ], "sort_fields": [ "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": 19 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1343.1343", "start_pos": 1343, "end_pos": 1343, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs200505733", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200505733", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200505733", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200505733", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200505733", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200505733", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200505733", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200505733#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200505733", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200505733", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KLSGKTVVAHTSPWMPVVTT", "down_seq": "TQTKIRPNLPIPSTVLRKSC", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1343", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs200505733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200505733" }, { "id": "rs200505733", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200505733" }, { "id": "rs200505733", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200505733" }, { "id": "rs200505733", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200505733#frequency_tab" }, { "id": "rs200505733", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200505733" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "6", "chr_pos": "43339970", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S1343", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5VUA4-1.1328.1328", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q5VUA4-1.1333.1333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q5VUA4-1.1334.1334", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.1341.1341", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.1342.1342", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5VUA4-1.1353.1353", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5VUA4-1.1361.1361", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1366.1366", "start_pos": 1366, "end_pos": 1366, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Spatial and temporal proteomics reveals the distinct distributions and dynamics of O-GlcNAcylated proteins.", "journal": "Cell reports", "date": "2022-06-14", "authors": "Xu Senhan, Tong Ming, Suttapitugsakul Suttipong, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "crossref": [ { "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs998993954", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs998993954", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs998993954", "url": "https://www.ensembl.org/id/rs998993954", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TKIRPNLPIPSTVLRKSCSA", "down_seq": "MSKPAPLNTFLSIKSSGTTA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1366", "evidence": [ { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs998993954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs998993954" }, { "id": "rs998993954", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs998993954" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "43339902", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1366", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5VUA4-1.1353.1353", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q5VUA4-1.1361.1361", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1558.1558", "start_pos": 1558, "end_pos": 1558, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PPPPLSSVFSEQAKKLEKRN", "down_seq": "CLATANAKDLYDIFYSSGGK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1558", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.1566.1566", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1603.1603", "start_pos": 1603, "end_pos": 1603, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Site-Specific Profiling of Serum Glycoproteins Using N-Linked Glycan and Glycosite Analysis Revealing Atypical N-Glycosylation Sites on Albumin and alpha-1B-Glycoprotein.", "journal": "Analytical chemistry", "date": "2018", "authors": "Sun S, Hu Y, Jia L, Eshghi ST, Liu Y, Shah P, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" }, { "database": "GlyConnect", "id": "2091", "url": "https://glyconnect.expasy.org/browser/proteins/2091" } ], "reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] } ], "crossref": [ { "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580", "database": "PubMed", "categories": [ "Other" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "2091", "url": "https://glyconnect.expasy.org/browser/proteins/2091", "database": "GlyConnect", "categories": [ "Glycomics", "Glycoproteomics" ] }, { "id": "rs758810828", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758810828", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758810828", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758810828", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758810828", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758810828", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1208202746", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208202746", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1208202746", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208202746#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1208202746", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208202746", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TKGAPETKLSGGPLANGENS", "down_seq": "LSRTKSSDTSSTSPLNSSAS", "glycosylation": [ { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1603", "evidence": [ { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1603", "evidence": [ { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "2091", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2091" } ] } ], "snv": [ { "evidence": [ { "id": "rs758810828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758810828" }, { "id": "rs758810828", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758810828" }, { "id": "rs758810828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758810828" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLS->SLS); n-glyco-sequon-gain (NSN->NSS).", "chr_id": "6", "chr_pos": "43339190", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1603", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1208202746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208202746" }, { "id": "rs1208202746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208202746#frequency_tab" }, { "id": "rs1208202746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1208202746" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "6", "chr_pos": "43339189", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1603", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.1605.1605", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.1611.1611", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5VUA4-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5VUA4-1.1615.1615", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5VUA4-1.1616.1616", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5VUA4-1.1623.1623", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1693.1693", "start_pos": 1693, "end_pos": 1693, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "FLQPLTRLCQSRPYETITPK", "down_seq": "DTLAIWTSSSFQSDTSRDIS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1693", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.1695.1695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.1700.1700", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5VUA4-1.1702.1702", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5VUA4-1.1706.1706", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5VUA4-1.1713.1713", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1695.1695", "start_pos": 1695, "end_pos": 1695, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs201736060", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201736060", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201736060", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201736060", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QPLTRLCQSRPYETITPKTD", "down_seq": "LAIWTSSSFQSDTSRDISPE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1695", "evidence": [ { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs201736060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201736060" }, { "id": "rs201736060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201736060" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "6", "chr_pos": "43338915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1695", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.1693.1693", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5VUA4-1.1700.1700", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.1702.1702", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.1706.1706", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5VUA4-1.1713.1713", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1700.1700", "start_pos": 1700, "end_pos": 1700, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs761839433", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761839433", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761839433", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761839433", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761839433", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761839433", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LCQSRPYETITPKTDTLAIW", "down_seq": "SSSFQSDTSRDISPEKSELD", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1700", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs761839433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761839433" }, { "id": "rs761839433", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761839433" }, { "id": "rs761839433", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761839433" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "43338899", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1700", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.1693.1693", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q5VUA4-1.1695.1695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.1702.1702", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5VUA4-1.1706.1706", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5VUA4-1.1713.1713", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1702.1702", "start_pos": 1702, "end_pos": 1702, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1354108538", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1354108538", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1354108538", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1354108538#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1354108538", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1354108538", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QSRPYETITPKTDTLAIWTS", "down_seq": "SFQSDTSRDISPEKSELDLG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1702", "evidence": [ { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs1354108538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1354108538" }, { "id": "rs1354108538", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1354108538#frequency_tab" }, { "id": "rs1354108538", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1354108538" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "6", "chr_pos": "43338894", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1702", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q5VUA4-1.1693.1693", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.1695.1695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.1700.1700", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5VUA4-1.1706.1706", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.1713.1713", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1888.1888", "start_pos": 1888, "end_pos": 1888, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1235824206", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235824206", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1235824206", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1235824206#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1235824206", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235824206", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1779319091", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779319091", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1779319091", "url": "https://www.ensembl.org/id/rs1779319091", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DSFLSEARSLLNPQDTPVKI", "down_seq": "APELLLHSPARSAMCLTGSP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1888", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs1235824206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235824206" }, { "id": "rs1235824206", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1235824206#frequency_tab" }, { "id": "rs1235824206", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1235824206" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "6", "chr_pos": "43338335", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1888", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779319091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779319091" }, { "id": "rs1779319091", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779319091" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "6", "chr_pos": "43338336", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1888", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q5VUA4-1.1883.1883", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.1886.1886", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.1896.1896", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1896.1896", "start_pos": 1896, "end_pos": 1896, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1779318787", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779318787", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1779318787", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779318787#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLLNPQDTPVKISAPELLLH", "down_seq": "PARSAMCLTGSPQEQGVSVV", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1896", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs1779318787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779318787" }, { "id": "rs1779318787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1779318787#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "6", "chr_pos": "43338311", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1896", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "6", "chr_pos": "43338311", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1896", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "site_lbl": "Ser1896" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5VUA4-1.1883.1883", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q5VUA4-1.1886.1886", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.1888.1888", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 20 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.807.807", "start_pos": 807, "end_pos": 807, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs775537780", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775537780", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775537780", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775537780", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775537780", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775537780", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1581646597", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1581646597", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1581646597", "url": "https://www.ensembl.org/id/rs1581646597", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SFDAYRHYMAYAASRWPMYP", "down_seq": "SQPSNHPVPEPHRIMPITKQ", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr807", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs775537780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775537780" }, { "id": "rs775537780", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775537780" }, { "id": "rs775537780", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775537780" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "43354914", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T807", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775537780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775537780" }, { "id": "rs775537780", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775537780" }, { "id": "rs775537780", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775537780" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "6", "chr_pos": "43354914", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T807", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1581646597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1581646597" }, { "id": "rs1581646597", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1581646597" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "6", "chr_pos": "43354915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T807", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.808.808", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5VUA4-1.811.811", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.808.808", "start_pos": 808, "end_pos": 808, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs759633839", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759633839", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759633839", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759633839", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759633839", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759633839#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759633839", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759633839", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1779582438", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779582438", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1779582438", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779582438", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FDAYRHYMAYAASRWPMYPT", "down_seq": "QPSNHPVPEPHRIMPITKQA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser808", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "snv": [ { "evidence": [ { "id": "rs759633839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759633839" }, { "id": "rs759633839", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759633839" }, { "id": "rs759633839", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759633839#frequency_tab" }, { "id": "rs759633839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759633839" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->A).", "chr_id": "6", "chr_pos": "43354912", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S808", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1779582438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779582438" }, { "id": "rs1779582438", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779582438" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "6", "chr_pos": "43354911", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S808", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759633839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759633839" }, { "id": "rs759633839", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759633839" }, { "id": "rs759633839", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759633839#frequency_tab" }, { "id": "rs759633839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759633839" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "6", "chr_pos": "43354912", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S808", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.807.807", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5VUA4-1.811.811", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.811.811", "start_pos": 811, "end_pos": 811, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YRHYMAYAASRWPMYPTSQP", "down_seq": "NHPVPEPHRIMPITKQATRS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser811", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q5VUA4-1.807.807", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5VUA4-1.808.808", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.866.866", "start_pos": 866, "end_pos": 866, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Ultradeep O-GlcNAc proteomics reveals widespread O-GlcNAcylation on tyrosine residues of proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2024-11-19", "authors": "Hou Chunyan, Deng Jingtao, Wu Ci, Zhang Jing, Byers Stephen, Moremen Kelley W, Pei Huadong, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "GATAD2B O-GlcNAcylation Regulates Breast Cancer Stem-like Potential and Drug Resistance.", "journal": "Cells", "date": "2025-03-08", "authors": "Le Minh Giang, Merzy Jessica, Esquea Emily M, Ahmed Nusaiba N, Young Riley G, Sharp Ryan J, Dhameliya Tejsi T, Agana Bernice, Lee Mi-Hye, Bethard Jennifer R, Comte-Walters Susana, Ball Lauren E, Reginato Mauricio J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "database": "O-GlcNAc Atlas", "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40136647", "url": "https://glygen.org/publication/PubMed/40136647", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "https://oglcnac.org/atlas/detail/Q5VUA4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PKQKESLRGSIPAAQVPVQV", "down_seq": "IPSLIRYNPEKISDEKNRAS", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser866", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q5VUA4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5VUA4" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40136647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40136647" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q5VUA4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5VUA4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.877.877", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5VUA4-1.884.884", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 17 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1013.1013", "start_pos": 1013, "end_pos": 1013, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1301724838", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301724838", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1301724838", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301724838", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SDSREPTEKPGKAEKSKSPE", "down_seq": "VSSFSNSSSNKESKVNNEKF", "snv": [ { "evidence": [ { "id": "rs1301724838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301724838" }, { "id": "rs1301724838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301724838" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "6", "chr_pos": "43348357", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1013", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q5VUA4-1.1010.1010", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1100.1100", "start_pos": 1100, "end_pos": 1100, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1227461850", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1227461850", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1227461850", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1227461850", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DFFTHMHNKKHTQTLDPYNR", "down_seq": "WASKTQSEAKQDAIKRTDKI", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "6", "chr_pos": "43342190", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1100", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1227461850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1227461850" }, { "id": "rs1227461850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1227461850" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRP->NRT).", "chr_id": "6", "chr_pos": "43342190", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1100", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.1093.1093", "categories": [ "glycosylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5VUA4-1.1116.1116", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1116.1116", "start_pos": 1116, "end_pos": 1116, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PYNRPWASKTQSEAKQDAIK", "down_seq": "TDKITVPAKGSEFLVPISGF", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43342142", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1116", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5VUA4-1.1100.1100", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1182.1182", "start_pos": 1182, "end_pos": 1182, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EKYKKYVDENPLYEERRNLD", "down_seq": "QAGLAVVLETERRRQSELKR", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "43340454", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1182", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1244.1244", "start_pos": 1244, "end_pos": 1244, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KEDDKVSEKLEDQLSEGRNS", "down_seq": "EKAENKRNTGIKLQLKEEVK", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "6", "chr_pos": "43340268", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1244", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.1243.1243", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1294.1294", "start_pos": 1294, "end_pos": 1294, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "rs1779351476", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779351476", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1779351476", "url": "https://www.ensembl.org/id/rs1779351476", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GKFSWKKPEKEEEKSSLVTP", "down_seq": "ISKEEILESSKDKEDGKTEA", "snv": [ { "evidence": [ { "id": "rs1779351476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779351476" }, { "id": "rs1779351476", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779351476" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "6", "chr_pos": "43340117", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1294", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1294" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag", "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q5VUA4-1.1289.1289", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.1292.1292", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.1296.1296", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5VUA4-1.1304.1304", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1353.1353", "start_pos": 1353, "end_pos": 1353, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TSPWMPVVTTSTQTKIRPNL", "down_seq": "IPSTVLRKSCSATMSKPAPL", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "6", "chr_pos": "43339941", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1353", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5VUA4-1.1333.1333", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q5VUA4-1.1334.1334", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q5VUA4-1.1341.1341", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.1342.1342", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q5VUA4-1.1343.1343", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.1361.1361", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5VUA4-1.1366.1366", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1361.1361", "start_pos": 1361, "end_pos": 1361, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1418121236", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418121236", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1418121236", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1418121236#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TTSTQTKIRPNLPIPSTVLR", "down_seq": "SCSATMSKPAPLNTFLSIKS", "snv": [ { "evidence": [ { "id": "rs1418121236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418121236" }, { "id": "rs1418121236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1418121236#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSC->NSC).", "chr_id": "6", "chr_pos": "43339915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1361", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5VUA4-1.1341.1341", "categories": [ "glycosylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q5VUA4-1.1342.1342", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q5VUA4-1.1343.1343", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.1353.1353", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5VUA4-1.1366.1366", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1418.1418", "start_pos": 1418, "end_pos": 1418, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1232856369", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232856369", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1232856369", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232856369", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "DLLLPPDIISKAFGGEEVIL", "down_seq": "GSPEEKVVLAEKSEPSHLPE", "snv": [ { "evidence": [ { "id": "rs1232856369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232856369" }, { "id": "rs1232856369", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232856369" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "6", "chr_pos": "43339744", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1418", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.1420.1420", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1566.1566", "start_pos": 1566, "end_pos": 1566, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753276704", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753276704", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753276704", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753276704", "database": "ExAC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FSEQAKKLEKRNSCLATANA", "down_seq": "DLYDIFYSSGGKGAPETKGA", "snv": [ { "evidence": [ { "id": "rs753276704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753276704" }, { "id": "rs753276704", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753276704" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAK->NAT).", "chr_id": "6", "chr_pos": "43339301", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1566", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.1558.1558", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1604.1604", "start_pos": 1604, "end_pos": 1604, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752943002", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752943002", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752943002", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752943002", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752943002", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752943002", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KGAPETKLSGGPLANGENSN", "down_seq": "SRTKSSDTSSTSPLNSSASQ", "snv": [ { "evidence": [ { "id": "rs752943002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752943002" }, { "id": "rs752943002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752943002" }, { "id": "rs752943002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752943002" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NPS).", "chr_id": "6", "chr_pos": "43339187", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L1604", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.1603.1603", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.1605.1605", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.1611.1611", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.1615.1615", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5VUA4-1.1616.1616", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5VUA4-1.1623.1623", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1605.1605", "start_pos": 1605, "end_pos": 1605, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1779334777", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779334777", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1779334777", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779334777", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GAPETKLSGGPLANGENSNL", "down_seq": "RTKSSDTSSTSPLNSSASQE", "snv": [ { "evidence": [ { "id": "rs1779334777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779334777" }, { "id": "rs1779334777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1779334777" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLF).", "chr_id": "6", "chr_pos": "43339184", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1605", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.1603.1603", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5VUA4-1.1611.1611", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5VUA4-1.1615.1615", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.1616.1616", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5VUA4-1.1623.1623", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1611.1611", "start_pos": 1611, "end_pos": 1611, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LSGGPLANGENSNLSRTKSS", "down_seq": "TSSTSPLNSSASQEELHQDE", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "6", "chr_pos": "43339167", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1611", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.1603.1603", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5VUA4-1.1605.1605", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5VUA4-1.1615.1615", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5VUA4-1.1616.1616", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5VUA4-1.1623.1623", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1612.1612", "start_pos": 1612, "end_pos": 1612, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs566380809", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566380809", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs566380809", "url": "https://www.ensembl.org/id/rs566380809", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SGGPLANGENSNLSRTKSSD", "down_seq": "SSTSPLNSSASQEELHQDEG", "snv": [ { "evidence": [ { "id": "rs566380809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566380809" }, { "id": "rs566380809", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs566380809" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "6", "chr_pos": "43339163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1612", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q5VUA4-1.1603.1603", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.1605.1605", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.1611.1611", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5VUA4-1.1615.1615", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5VUA4-1.1616.1616", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.1623.1623", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1640.1640", "start_pos": 1640, "end_pos": 1640, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs182370823", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182370823", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs182370823", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182370823", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs182370823", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182370823", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs182370823", "url": "https://www.ncbi.nlm.nih.gov/snp/rs182370823#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs182370823", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182370823", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SSASQEELHQDEGLVAAPIV", "down_seq": "NSEKPIAKTLVALGKWSVVE", "snv": [ { "evidence": [ { "id": "rs182370823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182370823" }, { "id": "rs182370823", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182370823" }, { "id": "rs182370823", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182370823" }, { "id": "rs182370823", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs182370823#frequency_tab" }, { "id": "rs182370823", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182370823" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "6", "chr_pos": "43339079", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000784929", "site_lbl": "S1640", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q5VUA4-1.1623.1623", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1706.1706", "start_pos": 1706, "end_pos": 1706, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs528148704", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528148704", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs528148704", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528148704", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs528148704", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528148704", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs528148704", "url": "http://gnomad.broadinstitute.org/awesome?query=rs528148704", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YETITPKTDTLAIWTSSSFQ", "down_seq": "DTSRDISPEKSELDLGEPGP", "snv": [ { "evidence": [ { "id": "rs528148704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528148704" }, { "id": "rs528148704", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528148704" }, { "id": "rs528148704", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528148704" }, { "id": "rs528148704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs528148704" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SDT->NDT).", "chr_id": "6", "chr_pos": "43338881", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "S1706", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5VUA4-1.1693.1693", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.1695.1695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5VUA4-1.1700.1700", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5VUA4-1.1702.1702", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.1713.1713", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1753.1753", "start_pos": 1753, "end_pos": 1753, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "PQLLDIQCKESQKLVEIHLR", "down_seq": "SVNQDKESQELRKSEDCRES", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "6", "chr_pos": "43338741", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E1753", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1798.1798", "start_pos": 1798, "end_pos": 1798, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1382138998", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382138998", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1382138998", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382138998", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NTELKERVKELSEGIVDEGV", "down_seq": "TSIGPHSIDDSNLNHGNRYM", "snv": [ { "evidence": [ { "id": "rs1382138998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382138998" }, { "id": "rs1382138998", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382138998" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "6", "chr_pos": "43338605", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1798", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q5VUA4-1.1817.1817", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1817.1817", "start_pos": 1817, "end_pos": 1817, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1427960951", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427960951", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1427960951", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1427960951#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1427960951", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427960951", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VSTSIGPHSIDDSNLNHGNR", "down_seq": "MWEGEVKQPNLLMIDKEAEQ", "snv": [ { "evidence": [ { "id": "rs1427960951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427960951" }, { "id": "rs1427960951", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1427960951#frequency_tab" }, { "id": "rs1427960951", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427960951" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRY->NRS).", "chr_id": "6", "chr_pos": "43338548", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1817", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5VUA4-1.1798.1798", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1886.1886", "start_pos": 1886, "end_pos": 1886, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KLDSFLSEARSLLNPQDTPV", "down_seq": "ISAPELLLHSPARSAMCLTG", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "6", "chr_pos": "43338340", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K1886", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q5VUA4-1.1883.1883", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.1888.1888", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5VUA4-1.1896.1896", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.188.188", "start_pos": 188, "end_pos": 188, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763762919", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763762919", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763762919", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763762919", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763762919", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763762919", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SDRLGSPVDNLEDMDRDDLT", "down_seq": "DSVFTRSSQCSRGLERYISQ", "snv": [ { "evidence": [ { "id": "rs763762919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763762919" }, { "id": "rs763762919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763762919" }, { "id": "rs763762919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763762919" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "6", "chr_pos": "43357752", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D188", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5VUA4-1.173.173", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5VUA4-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5VUA4-1.205.205", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5VUA4-1.207.207", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.2048.2048", "start_pos": 2048, "end_pos": 2048, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RVSPAHRSPTVLCQKVCEEN", "down_seq": "VSPIGCNSSDPADFEPIPSF", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43337855", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S2048", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5VUA4-1.2030.2030", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q5VUA4-1.2035.2035", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5VUA4-1.2051.2051", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.204.204", "start_pos": 204, "end_pos": 204, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DDLTDDSVFTRSSQCSRGLE", "down_seq": "YISQEEGPLSPFLGQLDEDY", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43357704", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R204", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5VUA4-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.205.205", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5VUA4-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5VUA4-1.214.214", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.2051.2051", "start_pos": 2051, "end_pos": 2051, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PAHRSPTVLCQKVCEENSVS", "down_seq": "IGCNSSDPADFEPIPSFSGF", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43337847", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P2051", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5VUA4-1.2035.2035", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5VUA4-1.2048.2048", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.2161.2161", "start_pos": 2161, "end_pos": 2161, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1761801485", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1761801485", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1761801485", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1761801485#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ESSQLDKQESLGLELKTINS", "down_seq": "GLGPSPCLPDLVDFVTRTSG", "snv": [ { "evidence": [ { "id": "rs1761801485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1761801485" }, { "id": "rs1761801485", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1761801485#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "6", "chr_pos": "43337517", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A2161", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.235.235", "start_pos": 235, "end_pos": 235, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1367533696", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1367533696", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1367533696", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1367533696", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PFLGQLDEDYRTKETFLHRS", "down_seq": "YSPHISCHDELLRGTERNRE", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" }, { "id": "rs1367533696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1367533696" }, { "id": "rs1367533696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1367533696" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "6", "chr_pos": "43357611", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D235", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.277.277", "start_pos": 277, "end_pos": 277, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LKGYSIRSEERSREAKRPRY", "down_seq": "DTVKINSMGGDHPSFTSGTR", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "6", "chr_pos": "43357485", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D277", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5VUA4-1.291.291", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1478011578", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478011578", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1478011578", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478011578#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1478011578", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478011578", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "EERSREAKRPRYDDTVKINS", "down_seq": "GGDHPSFTSGTRNYRQRRRS", "snv": [ { "evidence": [ { "id": "rs1478011578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1478011578" }, { "id": "rs1478011578", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1478011578#frequency_tab" }, { "id": "rs1478011578", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1478011578" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSM->NST).", "chr_id": "6", "chr_pos": "43357460", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M285", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5VUA4-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5VUA4-1.305.305", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.291.291", "start_pos": 291, "end_pos": 291, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs915734186", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915734186", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs915734186", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915734186", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AKRPRYDDTVKINSMGGDHP", "down_seq": "FTSGTRNYRQRRRSPSPRFL", "snv": [ { "evidence": [ { "id": "rs915734186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915734186" }, { "id": "rs915734186", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915734186" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFT->NFT).", "chr_id": "6", "chr_pos": "43357442", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S291", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5VUA4-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5VUA4-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5VUA4-1.305.305", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5VUA4-1.307.307", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.316.316", "start_pos": 316, "end_pos": 316, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TRNYRQRRRSPSPRFLDPEF", "down_seq": "ELDLARRKREEEEERSRSLS", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "6", "chr_pos": "43357368", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R316", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.305.305", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q5VUA4-1.307.307", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.399.399", "start_pos": 399, "end_pos": 399, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1581647763", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1581647763", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1581647763", "url": "https://www.ensembl.org/id/rs1581647763", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KSILKKRIEVDIMEPSMQLE", "down_seq": "FSSSTSSSQDHPLYSGHPSL", "snv": [ { "evidence": [ { "id": "rs1581647763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1581647763" }, { "id": "rs1581647763", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1581647763" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "6", "chr_pos": "43356138", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S399", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q5VUA4-1.405.405", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.405.405", "start_pos": 405, "end_pos": 405, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1335837261", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335837261", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1335837261", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335837261", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RIEVDIMEPSMQLESFSSST", "down_seq": "SSQDHPLYSGHPSLPLSGAI", "snv": [ { "evidence": [ { "id": "rs1335837261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335837261" }, { "id": "rs1335837261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335837261" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "6", "chr_pos": "43356120", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S405", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q5VUA4-1.399.399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.489.489", "start_pos": 489, "end_pos": 489, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KFGSFLCHKDNLDLKAEGPE", "down_seq": "HTDFLLPHERASQDGSGFSR", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43355869", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R489", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q5VUA4-1.472.472", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5VUA4-1.501.501", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.526.526", "start_pos": 526, "end_pos": 526, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GFSRILSMLADSTSTQEKRR", "down_seq": "SFPDIEDEEKFLYGDEEEDL", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43355758", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R526", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.527.527", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5VUA4-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5VUA4-1.544.544", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.538.538", "start_pos": 538, "end_pos": 538, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "TSTQEKRRRSFPDIEDEEKF", "down_seq": "YGDEEEDLKAESVPKPLGSS", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43355722", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L538", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5VUA4-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.527.527", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5VUA4-1.544.544", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5VUA4-1.551.551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.544.544", "start_pos": 544, "end_pos": 544, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RRRSFPDIEDEEKFLYGDEE", "down_seq": "DLKAESVPKPLGSSESEVMR", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43355704", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E544", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5VUA4-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q5VUA4-1.527.527", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5VUA4-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.551.551", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.551.551", "start_pos": 551, "end_pos": 551, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "IEDEEKFLYGDEEEDLKAES", "down_seq": "PKPLGSSESEVMRQKASSLP", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43355683", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V551", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5VUA4-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.544.544", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.590.590", "start_pos": 590, "end_pos": 590, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LPSSAPAVKLESLEETNPEY", "down_seq": "KIHDLLKTIGLDIGVAEISQ", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43355565", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A590", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.661.661", "start_pos": 661, "end_pos": 661, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1779589427", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779589427", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1779589427", "url": "https://www.ensembl.org/id/rs1779589427", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SADHCSSVDHRFSADRCSSV", "down_seq": "HCFSADRRSSDPHRLESREA", "snv": [ { "evidence": [ { "id": "rs1779589427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1779589427" }, { "id": "rs1779589427", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1779589427" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DHC->NHC).", "chr_id": "6", "chr_pos": "43355353", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D661", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.710.710", "start_pos": 710, "end_pos": 710, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs752012819", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752012819", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752012819", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752012819", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752012819", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752012819", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "EVSHPHPPSPVDPYLLTKNS", "down_seq": "PFLKSDHPVGHISGPEVVGS", "snv": [ { "evidence": [ { "id": "rs752012819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752012819" }, { "id": "rs752012819", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752012819" }, { "id": "rs752012819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752012819" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "6", "chr_pos": "43355206", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P710", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5VUA4-1.692.692", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q5VUA4-1.698.698", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.709.709", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.836.836", "start_pos": 836, "end_pos": 836, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1464072052", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464072052", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1464072052", "url": "https://www.ensembl.org/id/rs1464072052", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PEPHRIMPITKQATRSRPNL", "down_seq": "VIPTVTPDKPKQKESLRGSI", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" }, { "id": "rs1464072052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464072052" }, { "id": "rs1464072052", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1464072052" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLC).", "chr_id": "6", "chr_pos": "43354828", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R836", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q5VUA4-1.842.842", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.877.877", "start_pos": 877, "end_pos": 877, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs770375654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770375654", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770375654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770375654", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770375654", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770375654", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PAAQVPVQVSIPSLIRYNPE", "down_seq": "ISDEKNRASQKQKVIEEREK", "snv": [ { "evidence": [ { "id": "rs770375654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770375654" }, { "id": "rs770375654", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770375654" }, { "id": "rs770375654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770375654" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "6", "chr_pos": "43354703", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K877", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.866.866", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.884.884", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.884.884", "start_pos": 884, "end_pos": 884, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QVSIPSLIRYNPEKISDEKN", "down_seq": "ASQKQKVIEEREKLKNDREA", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43354684", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R884", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5VUA4-1.866.866", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.877.877", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.953.953", "start_pos": 953, "end_pos": 953, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754154273", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754154273", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754154273", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754154273", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754154273", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754154273", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "EKDGHKDPLLVEVSRLQDNI", "down_seq": "KDIAELRQEAEEAEKKQSEL", "snv": [ { "evidence": [ { "id": "rs754154273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754154273" }, { "id": "rs754154273", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754154273" }, { "id": "rs754154273", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754154273" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIM->NIT).", "chr_id": "6", "chr_pos": "43348538", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M953", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.986.986", "start_pos": 986, "end_pos": 986, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5VUA4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs778980816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778980816", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778980816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778980816", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778980816", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778980816", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AEKKQSELDKVAQILGINIF", "down_seq": "KSQKSLSDSREPTEKPGKAE", "snv": [ { "evidence": [ { "id": "Q5VUA4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5VUA4" }, { "id": "rs778980816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778980816" }, { "id": "rs778980816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778980816" }, { "id": "rs778980816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778980816" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "6", "chr_pos": "43348440", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D986", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5VUA4-1.1010.1010", "start_pos": 1010, "end_pos": 1010, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KSLSDSREPTEKPGKAEKSK", "down_seq": "PEKVSSFSNSSSNKESKVNN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "site_lbl": "Ser1010" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q5VUA4-1.1013.1013", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1037.1037", "start_pos": 1037, "end_pos": 1037, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FSNSSSNKESKVNNEKFRTK", "down_seq": "PKPAESPQSATKQLDQPTAA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser1037" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPSPPRGRRLFPPGPAGFRG", "down_seq": "SRGESRADYARDGRGDHPGD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser109" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1243.1243", "start_pos": 1243, "end_pos": 1243, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VKEDDKVSEKLEDQLSEGRN", "down_seq": "PEKAENKRNTGIKLQLKEEV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser1243" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.1244.1244", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1267.1267", "start_pos": 1267, "end_pos": 1267, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AENKRNTGIKLQLKEEVKKE", "down_seq": "PTSSSFGKFSWKKPEKEEEK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "site_lbl": "Ser1267" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1289.1289", "start_pos": 1289, "end_pos": 1289, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TSSSFGKFSWKKPEKEEEKS", "down_seq": "LVTPSISKEEILESSKDKED", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1289" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q5VUA4-1.1292.1292", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5VUA4-1.1294.1294", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.1296.1296", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5VUA4-1.1304.1304", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1296.1296", "start_pos": 1296, "end_pos": 1296, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FSWKKPEKEEEKSSLVTPSI", "down_seq": "KEEILESSKDKEDGKTEAGK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1296" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.1289.1289", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5VUA4-1.1292.1292", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.1294.1294", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.1304.1304", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1304.1304", "start_pos": 1304, "end_pos": 1304, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EEEKSSLVTPSISKEEILES", "down_seq": "KDKEDGKTEAGKAKPIKIKL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1304" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5VUA4-1.1289.1289", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q5VUA4-1.1292.1292", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q5VUA4-1.1294.1294", "categories": [ "snv_flag", "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.1296.1296", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.136.136", "start_pos": 136, "end_pos": 136, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ADYARDGRGDHPGDSGSRRR", "down_seq": "PGLCSDSLEKSLRITVGNDH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser136" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1420.1420", "start_pos": 1420, "end_pos": 1420, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LLPPDIISKAFGGEEVILKG", "down_seq": "PEEKVVLAEKSEPSHLPEQI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser1420" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.1418.1418", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1615.1615", "start_pos": 1615, "end_pos": 1615, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PLANGENSNLSRTKSSDTSS", "down_seq": "SPLNSSASQEELHQDEGLVA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr1615" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5VUA4-1.1603.1603", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q5VUA4-1.1605.1605", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5VUA4-1.1611.1611", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5VUA4-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.1616.1616", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.1623.1623", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1616.1616", "start_pos": 1616, "end_pos": 1616, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LANGENSNLSRTKSSDTSST", "down_seq": "PLNSSASQEELHQDEGLVAA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser1616" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5VUA4-1.1603.1603", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q5VUA4-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.1605.1605", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q5VUA4-1.1611.1611", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5VUA4-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.1615.1615", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.1623.1623", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1623.1623", "start_pos": 1623, "end_pos": 1623, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NLSRTKSSDTSSTSPLNSSA", "down_seq": "QEELHQDEGLVAAPIVSNSE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser1623" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5VUA4-1.1603.1603", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q5VUA4-1.1604.1604", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q5VUA4-1.1605.1605", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q5VUA4-1.1611.1611", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.1612.1612", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.1615.1615", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.1616.1616", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5VUA4-1.1640.1640", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1713.1713", "start_pos": 1713, "end_pos": 1713, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TDTLAIWTSSSFQSDTSRDI", "down_seq": "PEKSELDLGEPGPPGVEPPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser1713" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5VUA4-1.1693.1693", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q5VUA4-1.1695.1695", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q5VUA4-1.1700.1700", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.1702.1702", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.1706.1706", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.173.173", "start_pos": 173, "end_pos": 173, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GNDHFCVSTPERRRLSDRLG", "down_seq": "PVDNLEDMDRDDLTDDSVFT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser173" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q5VUA4-1.188.188", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1847.1847", "start_pos": 1847, "end_pos": 1847, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NLLMIDKEAEQSNKLMTGSE", "down_seq": "PSKVVIKLSPQACSFTKAKL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr1847" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q5VUA4-1.1856.1856", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1856.1856", "start_pos": 1856, "end_pos": 1856, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EQSNKLMTGSETPSKVVIKL", "down_seq": "PQACSFTKAKLDSFLSEARS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1856" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q5VUA4-1.1847.1847", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1883.1883", "start_pos": 1883, "end_pos": 1883, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TKAKLDSFLSEARSLLNPQD", "down_seq": "PVKISAPELLLHSPARSAMC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr1883" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q5VUA4-1.1886.1886", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5VUA4-1.1888.1888", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5VUA4-1.1896.1896", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1945.1945", "start_pos": 1945, "end_pos": 1945, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A Molecular Basis for the Presentation of Phosphorylated Peptides by HLA-B Antigens.", "journal": "Molecular & cellular proteomics : MCP", "date": "2017-02", "authors": "Alp\u00edzar Ad\u00e1n, Marino Fabio, Ramos-Fern\u00e1ndez Antonio, Lombard\u00eda Manuel, Jeko Anita, Pazos Florencio, Paradela Alberto, Santiago C\u00e9sar, Heck Albert J R, Marcilla Miguel", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "IEDB", "id": "240319", "url": "https://www.iedb.org/epitope/240319" }, { "database": "IEDB", "id": "241433", "url": "https://www.iedb.org/epitope/241433" }, { "database": "IEDB", "id": "604916", "url": "https://www.iedb.org/epitope/604916" }, { "database": "IEDB", "id": "611245", "url": "https://www.iedb.org/epitope/611245" }, { "database": "IEDB", "id": "611902", "url": "https://www.iedb.org/epitope/611902" }, { "database": "IEDB", "id": "613379", "url": "https://www.iedb.org/epitope/613379" } ], "reference": [ { "type": "PubMed", "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.iedb.org/epitope/Q5VUA4", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "APESASRTSRYRSLKLKRER", "down_seq": "KDFQVKKIYELAVWDENKKR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q5VUA4", "url": "https://www.iedb.org/epitope/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "27920218", "url": "https://glygen.org/publication/PubMed/27920218" } ], "site_lbl": "Ser1945" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.1971.1971", "start_pos": 1971, "end_pos": 1971, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KKIYELAVWDENKKRPETWE", "down_seq": "PEKPKTEALELQDVHPELTV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser1971" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.2030.2030", "start_pos": 2030, "end_pos": 2030, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ELTALGNLGDMPVDFCTTRV", "down_seq": "PAHRSPTVLCQKVCEENSVS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "site_lbl": "Ser2030" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q5VUA4-1.2035.2035", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5VUA4-1.2048.2048", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.2035.2035", "start_pos": 2035, "end_pos": 2035, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GNLGDMPVDFCTTRVSPAHR", "down_seq": "PTVLCQKVCEENSVSPIGCN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "site_lbl": "Ser2035" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q5VUA4-1.2030.2030", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5VUA4-1.2048.2048", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5VUA4-1.2051.2051", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.205.205", "start_pos": 205, "end_pos": 205, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DLTDDSVFTRSSQCSRGLER", "down_seq": "ISQEEGPLSPFLGQLDEDYR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Tyr205" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q5VUA4-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5VUA4-1.214.214", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.2075.2075", "start_pos": 2075, "end_pos": 2075, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Direct identification of clinically relevant neoepitopes presented on native human melanoma tissue by mass spectrometry.", "journal": "Nature communications", "date": "2016-11-21", "authors": "Bassani-Sternberg Michal, Br\u00e4unlein Eva, Klar Richard, Engleitner Thomas, Sinitcyn Pavel, Audehm Stefan, Straub Melanie, Weber Julia, Slotta-Huspenina Julia, Specht Katja, Martignoni Marc E, Werner Angelika, Hein R\u00fcdiger, H Busch Dirk, Peschel Christian, Rad Roland, Cox J\u00fcrgen, Mann Matthias, Krackhardt Angela M", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.iedb.org/epitope/Q5VUA4", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NSSDPADFEPIPSFSGFPLD", "down_seq": "PKTLVLDFETEGERNSPNPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q5VUA4", "url": "https://www.iedb.org/epitope/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "27869121", "url": "https://glygen.org/publication/PubMed/27869121" } ], "site_lbl": "Ser2075" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q5VUA4-1.2091.2091", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TDDSVFTRSSQCSRGLERYI", "down_seq": "QEEGPLSPFLGQLDEDYRTK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser207" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5VUA4-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5VUA4-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.205.205", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5VUA4-1.214.214", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.2091.2091", "start_pos": 2091, "end_pos": 2091, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FPLDSPKTLVLDFETEGERN", "down_seq": "PNPRSVRIPSPNILKTGLTE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser2091" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5VUA4-1.2075.2075", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5VUA4-1.2101.2101", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.2101.2101", "start_pos": 2101, "end_pos": 2101, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDFETEGERNSPNPRSVRIP", "down_seq": "PNILKTGLTENVDRGLGGLE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser2101" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q5VUA4-1.2091.2091", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.214.214", "start_pos": 214, "end_pos": 214, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RSSQCSRGLERYISQEEGPL", "down_seq": "PFLGQLDEDYRTKETFLHRS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser214" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q5VUA4-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q5VUA4-1.205.205", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5VUA4-1.207.207", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.2189.2189", "start_pos": 2189, "end_pos": 2189, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LPDLVDFVTRTSGVQKDKLC", "down_seq": "PLSEPGDPSKCSSLELGPLQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser2189" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q5VUA4-1.2192.2192", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.2192.2192", "start_pos": 2192, "end_pos": 2192, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LVDFVTRTSGVQKDKLCSPL", "down_seq": "EPGDPSKCSSLELGPLQLEI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "site_lbl": "Ser2192" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q5VUA4-1.2189.2189", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.2243.2243", "start_pos": 2243, "end_pos": 2243, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LQVDDDSGDPLNLVKAPVSR", "down_seq": "PPREQVIEDNMVPQGMPEQE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser2243" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MGGDHPSFTSGTRNYRQRRR", "down_seq": "PSPRFLDPEFRELDLARRKR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser305" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5VUA4-1.285.285", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q5VUA4-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.307.307", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.316.316", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.307.307", "start_pos": 307, "end_pos": 307, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GDHPSFTSGTRNYRQRRRSP", "down_seq": "PRFLDPEFRELDLARRKREE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser307" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5VUA4-1.291.291", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.305.305", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5VUA4-1.316.316", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.40.40", "start_pos": 40, "end_pos": 40, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GGGPRSGRSSGSSSGPARRS", "down_seq": "PPPPPSGSSSRTPARRPRSP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser40" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q5VUA4-1.50.50", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5VUA4-1.52.52", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.464.464", "start_pos": 464, "end_pos": 464, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KEPQGNLYQWGPLPGIPKDN", "down_seq": "PLREKFGSFLCHKDNLDLKA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser464" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.472.472", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.472.472", "start_pos": 472, "end_pos": 472, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QWGPLPGIPKDNSPLREKFG", "down_seq": "FLCHKDNLDLKAEGPERHTD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "site_lbl": "Ser472" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.464.464", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5VUA4-1.489.489", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.501.501", "start_pos": 501, "end_pos": 501, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DLKAEGPERHTDFLLPHERA", "down_seq": "QDGSGFSRILSMLADSTSTQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser501" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5VUA4-1.489.489", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.50.50", "start_pos": 50, "end_pos": 50, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GSSSGPARRSSPPPPPSGSS", "down_seq": "RTPARRPRSPSGHRGRRASP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser50" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q5VUA4-1.40.40", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.52.52", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.61.61", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.527.527", "start_pos": 527, "end_pos": 527, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FSRILSMLADSTSTQEKRRR", "down_seq": "FPDIEDEEKFLYGDEEEDLK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser527" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q5VUA4-1.526.526", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5VUA4-1.544.544", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SSGPARRSSPPPPPSGSSSR", "down_seq": "PARRPRSPSGHRGRRASPSP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr52" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5VUA4-1.40.40", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.50.50", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q5VUA4-1.61.61", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PPPPPSGSSSRTPARRPRSP", "down_seq": "GHRGRRASPSPPRGRRVSPS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser61" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.50.50", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q5VUA4-1.52.52", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5VUA4-1.79.79", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5VUA4-1.81.81", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.684.684", "start_pos": 684, "end_pos": 684, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FSADRRSSDPHRLESREAHH", "down_seq": "NTHSPEVSHPHPPSPVDPYL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser684" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q5VUA4-1.692.692", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5VUA4-1.698.698", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.692.692", "start_pos": 692, "end_pos": 692, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DPHRLESREAHHSNTHSPEV", "down_seq": "HPHPPSPVDPYLLTKNSPPF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser692" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q5VUA4-1.684.684", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q5VUA4-1.698.698", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5VUA4-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5VUA4-1.710.710", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.698.698", "start_pos": 698, "end_pos": 698, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SREAHHSNTHSPEVSHPHPP", "down_seq": "PVDPYLLTKNSPPFLKSDHP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser698" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5VUA4-1.684.684", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q5VUA4-1.692.692", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q5VUA4-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5VUA4-1.710.710", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.709.709", "start_pos": 709, "end_pos": 709, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PEVSHPHPPSPVDPYLLTKN", "down_seq": "PPFLKSDHPVGHISGPEVVG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser709" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q5VUA4-1.692.692", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q5VUA4-1.698.698", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5VUA4-1.710.710", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPSGHRGRRASPSPPRGRRV", "down_seq": "PSPPRARRGSPSPPRGRRLF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser79" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5VUA4-1.61.61", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5VUA4-1.81.81", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.81.81", "start_pos": 81, "end_pos": 81, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGHRGRRASPSPPRGRRVSP", "down_seq": "PPRARRGSPSPPRGRRLFPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser81" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5VUA4-1.61.61", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5VUA4-1.79.79", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5VUA4-1.842.842", "start_pos": 842, "end_pos": 842, "uniprot_canonical_ac": "Q5VUA4-1", "length": 2279, "uniprot_id": "ZN318_HUMAN", "protein_name": "Zinc finger protein 318", "refseq_ac": "NP_055160", "refseq_name": "zinc finger protein 318", "gene_name": "ZNF318", "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MPITKQATRSRPNLRVIPTV", "down_seq": "PDKPKQKESLRGSIPAAQVP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q5VUA4", "url": "https://www.uniprot.org/uniprotkb/Q5VUA4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5VUA4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5VUA4" } ], "site_lbl": "Thr842" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1093", "end_pos": "1093" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1334", "end_pos": "1334" }, { "start_pos": "1341", "end_pos": "1341" }, { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1558", "end_pos": "1558" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1693", "end_pos": "1693" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "811", "end_pos": "811" }, { "start_pos": "866", "end_pos": "866" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1342", "end_pos": "1342" }, { "start_pos": "1603", "end_pos": "1603" }, { "start_pos": "1013", "end_pos": "1013" }, { "start_pos": "1100", "end_pos": "1100" }, { "start_pos": "1116", "end_pos": "1116" }, { "start_pos": "1182", "end_pos": "1182" }, { "start_pos": "1244", "end_pos": "1244" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1328", "end_pos": "1328" }, { "start_pos": "1333", "end_pos": "1333" }, { "start_pos": "1343", "end_pos": "1343" }, { "start_pos": "1353", "end_pos": "1353" }, { "start_pos": "1361", "end_pos": "1361" }, { "start_pos": "1366", "end_pos": "1366" }, { "start_pos": "1418", "end_pos": "1418" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "1604", "end_pos": "1604" }, { "start_pos": "1605", "end_pos": "1605" }, { "start_pos": "1611", "end_pos": "1611" }, { "start_pos": "1612", "end_pos": "1612" }, { "start_pos": "1640", "end_pos": "1640" }, { "start_pos": "1695", "end_pos": "1695" }, { "start_pos": "1700", "end_pos": "1700" }, { "start_pos": "1702", "end_pos": "1702" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1753", "end_pos": "1753" }, { "start_pos": "1798", "end_pos": "1798" }, { "start_pos": "1817", "end_pos": "1817" }, { "start_pos": "1886", "end_pos": "1886" }, { "start_pos": "1888", "end_pos": "1888" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "2048", "end_pos": "2048" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "2051", "end_pos": "2051" }, { "start_pos": "2161", "end_pos": "2161" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "405", "end_pos": "405" }, { "start_pos": "489", "end_pos": "489" }, { "start_pos": "526", "end_pos": "526" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "544", "end_pos": "544" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "590", "end_pos": "590" }, { "start_pos": "661", "end_pos": "661" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "807", "end_pos": "807" }, { "start_pos": "808", "end_pos": "808" }, { "start_pos": "836", "end_pos": "836" }, { "start_pos": "877", "end_pos": "877" }, { "start_pos": "884", "end_pos": "884" }, { "start_pos": "953", "end_pos": "953" }, { "start_pos": "986", "end_pos": "986" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1010", "end_pos": "1010" }, { "start_pos": "1037", "end_pos": "1037" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1243", "end_pos": "1243" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1289", "end_pos": "1289" }, { "start_pos": "1292", "end_pos": "1292" }, { "start_pos": "1294", "end_pos": "1294" }, { "start_pos": "1296", "end_pos": "1296" }, { "start_pos": "1304", "end_pos": "1304" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "1420", "end_pos": "1420" }, { "start_pos": "1615", "end_pos": "1615" }, { "start_pos": "1616", "end_pos": "1616" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1713", "end_pos": "1713" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "1847", "end_pos": "1847" }, { "start_pos": "1856", "end_pos": "1856" }, { "start_pos": "1883", "end_pos": "1883" }, { "start_pos": "1896", "end_pos": "1896" }, { "start_pos": "1945", "end_pos": "1945" }, { "start_pos": "1971", "end_pos": "1971" }, { "start_pos": "2030", "end_pos": "2030" }, { "start_pos": "2035", "end_pos": "2035" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "2075", "end_pos": "2075" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "2091", "end_pos": "2091" }, { "start_pos": "2101", "end_pos": "2101" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "2189", "end_pos": "2189" }, { "start_pos": "2192", "end_pos": "2192" }, { "start_pos": "2243", "end_pos": "2243" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "307", "end_pos": "307" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "472", "end_pos": "472" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "50", "end_pos": "50" }, { "start_pos": "527", "end_pos": "527" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "692", "end_pos": "692" }, { "start_pos": "698", "end_pos": "698" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "79", "end_pos": "79" }, { "start_pos": "81", "end_pos": "81" }, { "start_pos": "842", "end_pos": "842" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q5VUA4-1.836.836", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q49AG3-1.141.141", "start_pos": 141, "end_pos": 141, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "YFGNRDAPHAQCVLCKKILS", "down_seq": "SSLAPSKLRRHLETKHAAYK", "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ILSNSSLAPSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q49AG3-1.245.245", "start_pos": 245, "end_pos": 245, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "rs1007751299", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1007751299", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1007751299", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1007751299#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1007751299", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1007751299", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VVMRMFDEQYSKKIDAVQLS", "down_seq": "STVARRIKDLAADIEEELVC", "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KIDAVQLSNSTVAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn245", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "rs1007751299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1007751299" }, { "id": "rs1007751299", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1007751299#frequency_tab" }, { "id": "rs1007751299", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1007751299" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->DST).", "chr_id": "11", "chr_pos": "10854213", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N245", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q49AG3-1.247.247", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q49AG3-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs989639062", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989639062", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs989639062", "url": "http://gnomad.broadinstitute.org/awesome?query=rs989639062", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "MIAPLLCILSYNF", "down_seq": "TFAILNVYSKLTMFCTTNSL", "snv": [ { "evidence": [ { "id": "rs989639062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989639062" }, { "id": "rs989639062", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs989639062" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "11", "chr_pos": "10854905", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N14", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q49AG3-1.16.16", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q49AG3-1.22.22", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.164.164", "start_pos": 164, "end_pos": 164, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1294130321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294130321", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1294130321", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1294130321#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1294130321", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294130321", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LAPSKLRRHLETKHAAYKDK", "down_seq": "ISFFKQHLDSPENNKPPTPK", "snv": [ { "evidence": [ { "id": "rs1294130321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294130321" }, { "id": "rs1294130321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1294130321#frequency_tab" }, { "id": "rs1294130321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294130321" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "11", "chr_pos": "10854456", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D164", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q49AG3-1.180.180", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.16.16", "start_pos": 16, "end_pos": 16, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs747258793", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747258793", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747258793", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747258793", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747258793", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747258793#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs747258793", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747258793", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "MIAPLLCILSYNFNT", "down_seq": "AILNVYSKLTMFCTTNSLPM", "snv": [ { "evidence": [ { "id": "rs747258793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747258793" }, { "id": "rs747258793", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747258793" }, { "id": "rs747258793", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747258793#frequency_tab" }, { "id": "rs747258793", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747258793" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTF->NTS).", "chr_id": "11", "chr_pos": "10854899", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F16", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q49AG3-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q49AG3-1.22.22", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs144316827", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144316827", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs144316827", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144316827", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs144316827", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144316827#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs144316827", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144316827", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YKDKDISFFKQHLDSPENNK", "down_seq": "PTPKIVNTDNESATEASYNV", "snv": [ { "evidence": [ { "id": "rs144316827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144316827" }, { "id": "rs144316827", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144316827" }, { "id": "rs144316827", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144316827#frequency_tab" }, { "id": "rs144316827", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144316827" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "11", "chr_pos": "10854408", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "P180", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q49AG3-1.164.164", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1361276068", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361276068", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1361276068", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1361276068#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1361276068", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361276068", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IAPLLCILSYNFNTFAILNV", "down_seq": "SKLTMFCTTNSLPMDLLLKQ", "snv": [ { "evidence": [ { "id": "rs1361276068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361276068" }, { "id": "rs1361276068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1361276068#frequency_tab" }, { "id": "rs1361276068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361276068" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVY->NVC).", "chr_id": "11", "chr_pos": "10854881", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y22", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q49AG3-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q49AG3-1.16.16", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q49AG3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AG3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MRMFDEQYSKKIDAVQLSNS", "down_seq": "VARRIKDLAADIEEELVCRL", "snv": [ { "evidence": [ { "id": "Q49AG3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AG3" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "11", "chr_pos": "10854207", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T247", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q49AG3-1.245.245", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.278.278", "start_pos": 278, "end_pos": 278, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1445745740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445745740", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1445745740", "url": "https://www.ensembl.org/id/rs1445745740", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1445745740", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1445745740", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DIEEELVCRLKICDGFSLQL", "down_seq": "ESADVSGLAVLLVFVRYRFN", "snv": [ { "evidence": [ { "id": "rs1445745740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1445745740" }, { "id": "rs1445745740", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1445745740" }, { "id": "rs1445745740", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1445745740" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "11", "chr_pos": "10854114", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D278", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.327.327", "start_pos": 327, "end_pos": 327, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q49AG3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AG3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LCESLQSNATGEEIFNCINS", "down_seq": "MQKHEIEWEKCVDVCSDASR", "snv": [ { "evidence": [ { "id": "Q49AG3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AG3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSF->NSC).", "chr_id": "11", "chr_pos": "10853966", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F327", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q49AG3-1.340.340", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1460174360", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460174360", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1460174360", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1460174360#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1460174360", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460174360", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IFNCINSFMQKHEIEWEKCV", "down_seq": "VCSDASRAVDGKIAEAVTLI", "snv": [ { "evidence": [ { "id": "rs1460174360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460174360" }, { "id": "rs1460174360", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1460174360#frequency_tab" }, { "id": "rs1460174360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460174360" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVC->NVC).", "chr_id": "11", "chr_pos": "10853928", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D340", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q49AG3-1.327.327", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.449.449", "start_pos": 449, "end_pos": 449, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q49AG3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AG3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NTEVRWLSRGKVLVRLFELR", "down_seq": "ELLVFMDSAFRLSDCLTNSS", "snv": [ { "evidence": [ { "id": "Q49AG3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AG3" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "11", "chr_pos": "10853601", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R449", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.504.504", "start_pos": 504, "end_pos": 504, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q49AG3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AG3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LNEVNLSMQGKNVTVFTVFD", "down_seq": "MSSLLRKLEFWASSVEEENF", "snv": [ { "evidence": [ { "id": "Q49AG3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q49AG3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "11", "chr_pos": "10853434", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K504", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.570.570", "start_pos": 570, "end_pos": 570, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs539432603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539432603", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs539432603", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539432603", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs539432603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539432603", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs539432603", "url": "https://www.ncbi.nlm.nih.gov/snp/rs539432603#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs539432603", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539432603", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VQHLRGLRATLLKYFPVTND", "down_seq": "NAWVRNPFTVTVKPASLVAR", "snv": [ { "evidence": [ { "id": "rs539432603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539432603" }, { "id": "rs539432603", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539432603" }, { "id": "rs539432603", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539432603" }, { "id": "rs539432603", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs539432603#frequency_tab" }, { "id": "rs539432603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539432603" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "11", "chr_pos": "10853237", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "N570", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q49AG3-1.573.573", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.573.573", "start_pos": 573, "end_pos": 573, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1848124399", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848124399", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1848124399", "url": "https://www.ensembl.org/id/rs1848124399", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "LRGLRATLLKYFPVTNDNNA", "down_seq": "VRNPFTVTVKPASLVARDYE", "snv": [ { "evidence": [ { "id": "rs1848124399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1848124399" }, { "id": "rs1848124399", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1848124399" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAW->NAC).", "chr_id": "11", "chr_pos": "10853227", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W573", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q49AG3-1.570.570", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q49AG3-1.212.212", "start_pos": 212, "end_pos": 212, "uniprot_canonical_ac": "Q49AG3-1", "length": 693, "uniprot_id": "ZBED5_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 5", "refseq_ac": "NP_001137139", "refseq_name": "zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49AG3", "url": "https://www.uniprot.org/uniprotkb/Q49AG3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q49AG3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q49AG3" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] } ], "crossref": [ { "id": "Q49AG3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q49AG3", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SATEASYNVSYHIALSGEAH", "down_seq": "IGELLIKPCAKDVVMRMFDE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q49AG3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q49AG3" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ], "site_lbl": "Thr212" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "141", "end_pos": "141" }, { "start_pos": "245", "end_pos": "245" } ] }, { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "16", "end_pos": "16" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "278", "end_pos": "278" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "504", "end_pos": "504" }, { "start_pos": "570", "end_pos": "570" }, { "start_pos": "573", "end_pos": "573" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY6-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PTPLPGRGAPRTKPRAGRGP", "down_seq": "VGTPATLALPARGRPRSRNG", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr32", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.64.64", "start_pos": 64, "end_pos": 64, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1472727816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472727816", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1472727816", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1472727816#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1472727816", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472727816", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs774922640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774922640", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774922640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774922640", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774922640", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774922640", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs774922640", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774922640", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RGRPRSRNGLASKGQRGAAP", "down_seq": "GPGHRALPSRDTALPQERNK", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr64", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1472727816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472727816" }, { "id": "rs1472727816", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1472727816#frequency_tab" }, { "id": "rs1472727816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472727816" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "19", "chr_pos": "56539208", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T64", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774922640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774922640" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "19", "chr_pos": "56539209", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T64", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774922640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774922640" }, { "id": "rs774922640", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774922640" }, { "id": "rs774922640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774922640" }, { "id": "rs774922640", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774922640" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "56539209", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T64", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1472727816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472727816" }, { "id": "rs1472727816", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1472727816#frequency_tab" }, { "id": "rs1472727816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472727816" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "19", "chr_pos": "56539208", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T64", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q8NHY6-1.78.78", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NHY6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NHY6" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NHY6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NHY6" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NHY6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NHY6", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q8NHY6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NHY6" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q8NHY6-1.6.6", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NHY6-1.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VSKPDVISSLEQGKEPWTVK", "down_seq": "KMTRAWCPDLKAVWKIKELP", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56547876", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R166", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8NHY6-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8NHY6-1.185.185", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1396976478", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396976478", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1396976478", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396976478", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1396976478", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1396976478", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SKPDVISSLEQGKEPWTVKR", "down_seq": "MTRAWCPDLKAVWKIKELPL", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" }, { "id": "rs1396976478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396976478" }, { "id": "rs1396976478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396976478" }, { "id": "rs1396976478", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1396976478" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KMT->NMT).", "chr_id": "19", "chr_pos": "56547880", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K167", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8NHY6-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8NHY6-1.185.185", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.185.185", "start_pos": 185, "end_pos": 185, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KRKMTRAWCPDLKAVWKIKE", "down_seq": "PLKKDFCEGKLSQAVITERL", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56548987", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L185", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8NHY6-1.166.166", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q8NHY6-1.167.167", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8NHY6-1.190.190", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.190.190", "start_pos": 190, "end_pos": 190, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RAWCPDLKAVWKIKELPLKK", "down_seq": "FCEGKLSQAVITERLTSYNL", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DFC->NFC).", "chr_id": "19", "chr_pos": "56549002", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D190", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8NHY6-1.185.185", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1407998859", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407998859", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1407998859", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1407998859#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1407998859", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407998859", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1407998859", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1407998859", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "HWDYDALFETQPGLVTIKNL", "down_seq": "VDFRQQLHPAQKNFCKNGIW", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" }, { "id": "rs1407998859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407998859" }, { "id": "rs1407998859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1407998859#frequency_tab" }, { "id": "rs1407998859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407998859" }, { "id": "rs1407998859", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1407998859" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "19", "chr_pos": "56550091", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A238", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.291.291", "start_pos": 291, "end_pos": 291, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VAKPDLVSLLEQEKEPWMVK", "down_seq": "ELTGSLFSGQRSVHETQELF", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56550578", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R291", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56550579", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R291", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.323.323", "start_pos": 323, "end_pos": 323, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SVHETQELFPKQDSYAEGVT", "down_seq": "RTSNTKLDCSSFRENWDSDY", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DRT->NRT).", "chr_id": "19", "chr_pos": "56553752", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D323", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.367.367", "start_pos": 367, "end_pos": 367, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs146055435", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146055435", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs146055435", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146055435", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs146055435", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146055435#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs146055435", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146055435", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RKLAVGQETQFRQEPITHNK", "down_seq": "LSKERERTYNKSGRWFYLDD", "snv": [ { "evidence": [ { "id": "rs146055435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146055435" }, { "id": "rs146055435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146055435" }, { "id": "rs146055435", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146055435#frequency_tab" }, { "id": "rs146055435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146055435" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TLS->NLS).", "chr_id": "19", "chr_pos": "56553885", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T367", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q8NHY6-1.386.386", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.386.386", "start_pos": 386, "end_pos": 386, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KTLSKERERTYNKSGRWFYL", "down_seq": "DSEEKVHNRDSIKNFQKSSV", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "19", "chr_pos": "56553941", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D386", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8NHY6-1.367.367", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.409.409", "start_pos": 409, "end_pos": 409, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EEKVHNRDSIKNFQKSSVVI", "down_seq": "QTGIYAGKKLFKCNECKKTF", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KQT->NQT).", "chr_id": "19", "chr_pos": "56554012", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K409", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KKPYECIECGKAFIQNTSLI", "down_seq": "HWRYYHTGEKPFDCIDCGKA", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56554263", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R493", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1600552264", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1600552264", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1600552264", "url": "https://www.ensembl.org/id/rs1600552264", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DHIGLNQHRRIHTGEKPYKC", "down_seq": "VCHKSFRYGSSLTVHQRIHT", "snv": [ { "evidence": [ { "id": "rs1600552264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1600552264" }, { "id": "rs1600552264", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1600552264" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVC->NVC).", "chr_id": "19", "chr_pos": "56554391", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D536", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.557.557", "start_pos": 557, "end_pos": 557, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VCHKSFRYGSSLTVHQRIHT", "down_seq": "EKPYECDVCRKAFSHHASLT", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "56554454", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G557", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.676.676", "start_pos": 676, "end_pos": 676, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QKAHLAQHQKTHTGEKPYEC", "down_seq": "ECGKAFSQTTHLIQHQRVHT", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KEC->NEC).", "chr_id": "19", "chr_pos": "56554813", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K676", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.6.6", "start_pos": 6, "end_pos": 6, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765519244", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765519244", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765519244", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765519244", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765519244", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765519244#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765519244", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765519244", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MRGAA", "down_seq": "ASVREPTPLPGRGAPRTKPR", "snv": [ { "evidence": [ { "id": "rs765519244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765519244" }, { "id": "rs765519244", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765519244" }, { "id": "rs765519244", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765519244#frequency_tab" }, { "id": "rs765519244", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765519244" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "19", "chr_pos": "56539035", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S6", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8NHY6-1.0.0", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.748.748", "start_pos": 748, "end_pos": 748, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PYECIECGKAFKTKSSLICH", "down_seq": "RSHTGEKPYECSVCGKAFSH", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56555028", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R748", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.788.788", "start_pos": 788, "end_pos": 788, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HRQSLSVHQRIHSGKKPYEC", "down_seq": "ECRKTFIQIGHLNQHKRVHT", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KEC->NEC).", "chr_id": "19", "chr_pos": "56555149", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K788", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "QRGAAPTGPGHRALPSRDTA", "down_seq": "PQERNKKLEAVGTGIEPKAM", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "56539649", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L78", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8NHY6-1.64.64", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.816.816", "start_pos": 816, "end_pos": 816, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779475767", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779475767", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779475767", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779475767", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779475767", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779475767", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QIGHLNQHKRVHTGERSYNY", "down_seq": "KSRKVFRQTAHLAHHQRIHT", "snv": [ { "evidence": [ { "id": "rs779475767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779475767" }, { "id": "rs779475767", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779475767" }, { "id": "rs779475767", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779475767" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYK->NYT).", "chr_id": "19", "chr_pos": "56555232", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K816", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q8NHY6-1.833.833", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.833.833", "start_pos": 833, "end_pos": 833, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YNYKKSRKVFRQTAHLAHHQ", "down_seq": "IHTGESSTCPSLPSTSNPVD", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "56555283", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R833", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8NHY6-1.816.816", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NHY6-1.862.862", "start_pos": 862, "end_pos": 862, "uniprot_canonical_ac": "Q8NHY6-1", "length": 868, "uniprot_id": "ZFP28_HUMAN", "protein_name": "Zinc finger protein 28 homolog", "refseq_ac": "NP_001295369", "refseq_name": "zinc finger protein 28 homolog isoform 2", "gene_name": "ZFP28", "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NHY6", "url": "https://www.uniprot.org/uniprotkb/Q8NHY6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NHY6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "CPSLPSTSNPVDLFPKFLWN", "down_seq": "SSLPSP", "snv": [ { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "19", "chr_pos": "56555369", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P862", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q8NHY6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NHY6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "19", "chr_pos": "56555369", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P862", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" }, { "start_pos": "64", "end_pos": "64" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "291", "end_pos": "291" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "676", "end_pos": "676" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "748", "end_pos": "748" }, { "start_pos": "788", "end_pos": "788" }, { "start_pos": "78", "end_pos": "78" }, { "start_pos": "816", "end_pos": "816" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "862", "end_pos": "862" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1599590287", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599590287", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599590287", "url": "https://www.ensembl.org/id/rs1599590287", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ADEILLLGSEINLVNGAPDP", "down_seq": "AGAGIEDANCWHLDEEQIQE", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr243", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1599590287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599590287" }, { "id": "rs1599590287", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599590287" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "19", "chr_pos": "13808850", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T243", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs150620785", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150620785", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs150620785", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150620785", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs150620785", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150620785", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs150620785", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150620785#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs150620785", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150620785", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LQSGAVDRVLQVGFHLSGNI", "down_seq": "EPGSPGEPERLYHVSISFDR", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" }, { "id": "rs150620785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150620785" }, { "id": "rs150620785", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150620785" }, { "id": "rs150620785", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150620785" }, { "id": "rs150620785", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150620785#frequency_tab" }, { "id": "rs150620785", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150620785" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIR->NIC).", "chr_id": "19", "chr_pos": "13804815", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R127", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs150620785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150620785" }, { "id": "rs150620785", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150620785" }, { "id": "rs150620785", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150620785" }, { "id": "rs150620785", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150620785#frequency_tab" }, { "id": "rs150620785", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150620785" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIR->NIS).", "chr_id": "19", "chr_pos": "13804815", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R127", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q9H7M6-1.140.140", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9H7M6-1.146.146", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1377447924", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377447924", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1377447924", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1377447924#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1377447924", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377447924", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "FHLSGNIREPGSPGEPERLY", "down_seq": "VSISFDRCKITSVSCGCDNR", "snv": [ { "evidence": [ { "id": "rs1377447924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377447924" }, { "id": "rs1377447924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1377447924#frequency_tab" }, { "id": "rs1377447924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377447924" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HVS->NVS).", "chr_id": "19", "chr_pos": "13804854", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H140", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9H7M6-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9H7M6-1.146.146", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs147523825", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147523825", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs147523825", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147523825", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs147523825", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147523825#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs147523825", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147523825", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IREPGSPGEPERLYHVSISF", "down_seq": "RCKITSVSCGCDNRDLFYCA", "snv": [ { "evidence": [ { "id": "rs147523825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147523825" }, { "id": "rs147523825", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147523825" }, { "id": "rs147523825", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147523825#frequency_tab" }, { "id": "rs147523825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147523825" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DRC->NRC).", "chr_id": "19", "chr_pos": "13804872", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D146", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9H7M6-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9H7M6-1.140.140", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.273.273", "start_pos": 273, "end_pos": 273, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1282551254", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282551254", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1282551254", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282551254#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1282551254", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282551254", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "CWHLDEEQIQEQVKQLLSNG", "down_seq": "YYGASQQLRSMFSKVREMLR", "snv": [ { "evidence": [ { "id": "rs1282551254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282551254" }, { "id": "rs1282551254", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282551254#frequency_tab" }, { "id": "rs1282551254", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282551254" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGG->NGC).", "chr_id": "19", "chr_pos": "13808940", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G273", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1282551254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282551254" }, { "id": "rs1282551254", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1282551254#frequency_tab" }, { "id": "rs1282551254", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282551254" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "19", "chr_pos": "13808940", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G273", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9H7M6-1.282.282", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.282.282", "start_pos": 282, "end_pos": 282, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QEQVKQLLSNGGYYGASQQL", "down_seq": "SMFSKVREMLRMRDSNGARM", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "13808967", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R282", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9H7M6-1.273.273", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9H7M6-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9H7M6-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.300.300", "start_pos": 300, "end_pos": 300, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1379334150", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379334150", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1379334150", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1379334150#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1379334150", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379334150", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QLRSMFSKVREMLRMRDSNG", "down_seq": "RMLILMTEQFLQDTRLALWR", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" }, { "id": "rs1379334150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379334150" }, { "id": "rs1379334150", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1379334150#frequency_tab" }, { "id": "rs1379334150", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379334150" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "19", "chr_pos": "13809106", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A300", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9H7M6-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9H7M6-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LRSMFSKVREMLRMRDSNGA", "down_seq": "MLILMTEQFLQDTRLALWRQ", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "13809110", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R301", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9H7M6-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9H7M6-1.300.300", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.369.369", "start_pos": 369, "end_pos": 369, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs150148712", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150148712", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs150148712", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150148712", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs150148712", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150148712#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs150148712", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150148712", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "HCKPEERAGWLQLLSRWDKL", "down_seq": "VCPLEEGNYSFDGPSLQPTM", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" }, { "id": "rs150148712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150148712" }, { "id": "rs150148712", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150148712" }, { "id": "rs150148712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150148712#frequency_tab" }, { "id": "rs150148712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150148712" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DVC->NVC).", "chr_id": "19", "chr_pos": "13813089", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D369", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.37.37", "start_pos": 37, "end_pos": 37, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767283792", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767283792", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767283792", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767283792", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767283792", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767283792#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs767283792", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767283792", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EERDAGAGAARGRGRPEALL", "down_seq": "LSAKRVAESWAFEQVEERFS", "snv": [ { "evidence": [ { "id": "rs767283792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767283792" }, { "id": "rs767283792", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767283792" }, { "id": "rs767283792", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767283792#frequency_tab" }, { "id": "rs767283792", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767283792" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "19", "chr_pos": "13795757", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D37", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.399.399", "start_pos": 399, "end_pos": 399, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "SFDGPSLQPTMAPAPELLQK", "down_seq": "STCITNTEGWVGHPLDPIGC", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "13817231", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G399", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.543.543", "start_pos": 543, "end_pos": 543, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LEGGPFSGFGEVLFRESVPM", "down_seq": "TCARYLFTALLPHDPDLAYR", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HTC->NTC).", "chr_id": "19", "chr_pos": "13819410", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H543", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q9H7M6-1.558.558", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.558.558", "start_pos": 558, "end_pos": 558, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ESVPMHTCARYLFTALLPHD", "down_seq": "DLAYRLALRAMRLPILETAF", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "13819456", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P558", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9H7M6-1.543.543", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.596.596", "start_pos": 596, "end_pos": 596, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751178850", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751178850", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751178850", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751178850", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751178850", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751178850", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "TAFPAGEPHPSPLDSIMSNR", "down_seq": "PRWFILGHLETRQCELASTM", "snv": [ { "evidence": [ { "id": "rs751178850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751178850" }, { "id": "rs751178850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751178850" }, { "id": "rs751178850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751178850" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRF->NRS).", "chr_id": "19", "chr_pos": "13823423", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F596", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q9H7M6-1.607.607", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.607.607", "start_pos": 607, "end_pos": 607, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PLDSIMSNRFPRWFILGHLE", "down_seq": "RQCELASTMLTAAKGDPKWL", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "13823456", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T607", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9H7M6-1.596.596", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.684.684", "start_pos": 684, "end_pos": 684, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TTLLGIALELGLQVMRMTLN", "down_seq": "MTWRRREMVRWLVSCATEIG", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "13828666", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V684", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9H7M6-1.685.685", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.685.685", "start_pos": 685, "end_pos": 685, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs141544970", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141544970", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs141544970", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141544970", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs141544970", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141544970#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs141544970", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141544970", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "TLLGIALELGLQVMRMTLNV", "down_seq": "TWRRREMVRWLVSCATEIGP", "snv": [ { "evidence": [ { "id": "rs141544970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141544970" }, { "id": "rs141544970", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141544970" }, { "id": "rs141544970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141544970#frequency_tab" }, { "id": "rs141544970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141544970" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVM->NVT).", "chr_id": "19", "chr_pos": "13828670", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M685", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9H7M6-1.684.684", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.735.735", "start_pos": 735, "end_pos": 735, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1677972153", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1677972153", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1677972153", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1677972153#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "WYSLFTPVEAATIVAVTGTT", "down_seq": "ATLLRLQLDTSRREELWACA", "snv": [ { "evidence": [ { "id": "rs1677972153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1677972153" }, { "id": "rs1677972153", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1677972153#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HAT->NAT).", "chr_id": "19", "chr_pos": "13830283", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H735", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9H7M6-1.744.744", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.744.744", "start_pos": 744, "end_pos": 744, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AATIVAVTGTTHATLLRLQL", "down_seq": "TSRREELWACARTLALQCAM", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "19", "chr_pos": "13830310", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D744", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9H7M6-1.735.735", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.771.771", "start_pos": 771, "end_pos": 771, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs372292857", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372292857", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372292857", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372292857", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs372292857", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372292857", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372292857", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372292857#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372292857", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372292857", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LWACARTLALQCAMKDPQNC", "down_seq": "LPALTLCEKNHSAFEAAYQI", "snv": [ { "evidence": [ { "id": "rs372292857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372292857" }, { "id": "rs372292857", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372292857" }, { "id": "rs372292857", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372292857" }, { "id": "rs372292857", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372292857#frequency_tab" }, { "id": "rs372292857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372292857" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCA->NCS).", "chr_id": "19", "chr_pos": "13830391", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "A771", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372292857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372292857" }, { "id": "rs372292857", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372292857" }, { "id": "rs372292857", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372292857" }, { "id": "rs372292857", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372292857#frequency_tab" }, { "id": "rs372292857", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372292857" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCA->NCT).", "chr_id": "19", "chr_pos": "13830391", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "A771", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.810.810", "start_pos": 810, "end_pos": 810, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QIVLDAAAGGLGHAHLFTVA", "down_seq": "YMEHRGLPLRAYKLATLALA", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "13830509", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R810", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H7M6-1.971.971", "start_pos": 971, "end_pos": 971, "uniprot_canonical_ac": "Q9H7M6-1", "length": 989, "uniprot_id": "ZSWM4_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 4", "refseq_ac": "NP_075560", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "gene_name": "ZSWIM4", "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H7M6", "url": "https://www.uniprot.org/uniprotkb/Q9H7M6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H7M6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ETFLLAPDGHLQFSQFLENL", "down_seq": "QTYKGKKKLMLLVRERFG", "snv": [ { "evidence": [ { "id": "Q9H7M6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H7M6" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KQT->NQT).", "chr_id": "19", "chr_pos": "13830993", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K971", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "243", "end_pos": "243" } ] }, { "type": "snv", "site_list": [ { "start_pos": "127", "end_pos": "127" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "146", "end_pos": "146" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "369", "end_pos": "369" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "543", "end_pos": "543" }, { "start_pos": "558", "end_pos": "558" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "684", "end_pos": "684" }, { "start_pos": "685", "end_pos": "685" }, { "start_pos": "735", "end_pos": "735" }, { "start_pos": "744", "end_pos": "744" }, { "start_pos": "771", "end_pos": "771" }, { "start_pos": "810", "end_pos": "810" }, { "start_pos": "971", "end_pos": "971" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TB69-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q8TB69-1", "length": 540, "uniprot_id": "ZN519_HUMAN", "protein_name": "Zinc finger protein 519", "refseq_ac": "NP_660330", "refseq_name": "zinc finger protein 519", "gene_name": "ZNF519", "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TB69", "url": "https://www.uniprot.org/uniprotkb/Q8TB69" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TB69", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SHLKGHKIINTGEKSVKYKE", "down_seq": "GKAFTRGLHLGHQKIHTGEK", "snv": [ { "evidence": [ { "id": "Q8TB69", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "14105731", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R270", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TB69-1.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "Q8TB69-1", "length": 540, "uniprot_id": "ZN519_HUMAN", "protein_name": "Zinc finger protein 519", "refseq_ac": "NP_660330", "refseq_name": "zinc finger protein 519", "gene_name": "ZNF519", "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TB69", "url": "https://www.uniprot.org/uniprotkb/Q8TB69" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TB69", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "YLTQHQRIHTGERAFKCEEC", "down_seq": "KAFNRGSYLTQHQRIHTGEK", "snv": [ { "evidence": [ { "id": "Q8TB69", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "14105479", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G354", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TB69-1.387.387", "start_pos": 387, "end_pos": 387, "uniprot_canonical_ac": "Q8TB69-1", "length": 540, "uniprot_id": "ZN519_HUMAN", "protein_name": "Zinc finger protein 519", "refseq_ac": "NP_660330", "refseq_name": "zinc finger protein 519", "gene_name": "ZNF519", "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TB69", "url": "https://www.uniprot.org/uniprotkb/Q8TB69" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TB69", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QRIHTGEKPFRCKECGKAFN", "down_seq": "SSYVTQHQRMHTGEKPFKCK", "snv": [ { "evidence": [ { "id": "Q8TB69", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "14105380", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R387", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q8TB69-1.401.401", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TB69-1.401.401", "start_pos": 401, "end_pos": 401, "uniprot_canonical_ac": "Q8TB69-1", "length": 540, "uniprot_id": "ZN519_HUMAN", "protein_name": "Zinc finger protein 519", "refseq_ac": "NP_660330", "refseq_name": "zinc finger protein 519", "gene_name": "ZNF519", "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TB69", "url": "https://www.uniprot.org/uniprotkb/Q8TB69" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TB69", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "CGKAFNRSSYVTQHQRMHTG", "down_seq": "KPFKCKECGKAFNRASHLTQ", "snv": [ { "evidence": [ { "id": "Q8TB69", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "14105337", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E401", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8TB69-1.387.387", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TB69-1.431.431", "start_pos": 431, "end_pos": 431, "uniprot_canonical_ac": "Q8TB69-1", "length": 540, "uniprot_id": "ZN519_HUMAN", "protein_name": "Zinc finger protein 519", "refseq_ac": "NP_660330", "refseq_name": "zinc finger protein 519", "gene_name": "ZNF519", "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TB69", "url": "https://www.uniprot.org/uniprotkb/Q8TB69" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TB69", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "KAFNRASHLTQHQRIHTGEK", "down_seq": "FKCKECGKAFNRGSHLTRHQ", "snv": [ { "evidence": [ { "id": "Q8TB69", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "14105248", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "H431", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q8TB69-1.449.449", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TB69-1.449.449", "start_pos": 449, "end_pos": 449, "uniprot_canonical_ac": "Q8TB69-1", "length": 540, "uniprot_id": "ZN519_HUMAN", "protein_name": "Zinc finger protein 519", "refseq_ac": "NP_660330", "refseq_name": "zinc finger protein 519", "gene_name": "ZNF519", "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TB69", "url": "https://www.uniprot.org/uniprotkb/Q8TB69" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TB69", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EKHFKCKECGKAFNRGSHLT", "down_seq": "HQRIHTGEKSFKCEECGKAF", "snv": [ { "evidence": [ { "id": "Q8TB69", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "14105194", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R449", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8TB69-1.431.431", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8TB69-1.452.452", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TB69-1.452.452", "start_pos": 452, "end_pos": 452, "uniprot_canonical_ac": "Q8TB69-1", "length": 540, "uniprot_id": "ZN519_HUMAN", "protein_name": "Zinc finger protein 519", "refseq_ac": "NP_660330", "refseq_name": "zinc finger protein 519", "gene_name": "ZNF519", "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TB69", "url": "https://www.uniprot.org/uniprotkb/Q8TB69" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TB69", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FKCKECGKAFNRGSHLTRHQ", "down_seq": "IHTGEKSFKCEECGKAFIWG", "snv": [ { "evidence": [ { "id": "Q8TB69", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "14105185", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R452", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8TB69-1.449.449", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TB69-1.528.528", "start_pos": 528, "end_pos": 528, "uniprot_canonical_ac": "Q8TB69-1", "length": 540, "uniprot_id": "ZN519_HUMAN", "protein_name": "Zinc finger protein 519", "refseq_ac": "NP_660330", "refseq_name": "zinc finger protein 519", "gene_name": "ZNF519", "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TB69", "url": "https://www.uniprot.org/uniprotkb/Q8TB69" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TB69", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RIHTGEKPFKCKECGKAFNR", "down_seq": "STLTQHQIIHTR", "snv": [ { "evidence": [ { "id": "Q8TB69", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "14104958", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R528", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TB69-1.99.99", "start_pos": 99, "end_pos": 99, "uniprot_canonical_ac": "Q8TB69-1", "length": 540, "uniprot_id": "ZN519_HUMAN", "protein_name": "Zinc finger protein 519", "refseq_ac": "NP_660330", "refseq_name": "zinc finger protein 519", "gene_name": "ZNF519", "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TB69", "url": "https://www.uniprot.org/uniprotkb/Q8TB69" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TB69", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ICLWKNWESIGEGEGQKECY", "down_seq": "LCSQYLTTSHNKHLTVKGDK", "snv": [ { "evidence": [ { "id": "Q8TB69", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TB69" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "1557", "subjects_positive": "10", "frequency": "0.6", "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: patient count (10/1557).", "chr_id": "18", "chr_pos": "14106245", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N99", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "270", "end_pos": "270" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "387", "end_pos": "387" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "452", "end_pos": "452" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "99", "end_pos": "99" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IVP9-1.229.229", "start_pos": 229, "end_pos": 229, "uniprot_canonical_ac": "Q8IVP9-1", "length": 402, "uniprot_id": "ZN547_HUMAN", "protein_name": "Zinc finger protein 547", "refseq_ac": "NP_775902", "refseq_name": "zinc finger protein 547", "gene_name": "ZNF547", "gene_names_uniprotkb": "ZNF547", "gene_names_refseq": "ZNF547", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IVP9", "url": "https://www.uniprot.org/uniprotkb/Q8IVP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IVP9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IVP9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ERPYECNECGKAFLCKSHLV", "down_seq": "HQTIHSGERPYECSECGKLF", "snv": [ { "evidence": [ { "id": "Q8IVP9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IVP9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "57377661", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R229", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "229", "end_pos": "229" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.380.380", "start_pos": 380, "end_pos": 380, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "rs2044499791", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044499791", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2044499791", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044499791#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RIHTGKRPYECIDCGKAFRQ", "down_seq": "ASLIRHRRYYHTGEKPFDCI", "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QNASLIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn380", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "rs2044499791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044499791" }, { "id": "rs2044499791", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044499791#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "19", "chr_pos": "56577568", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N380", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6ECI4-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q6ECI4-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6ECI4-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6ECI4-1.390.390", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ECI4-1.13.13", "start_pos": 13, "end_pos": 13, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1311177768", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311177768", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1311177768", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311177768", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MKSQEEVEVAGI", "down_seq": "LCKAMSLGSVTFTDVAIDFS", "snv": [ { "evidence": [ { "id": "rs1311177768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311177768" }, { "id": "rs1311177768", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311177768" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLC->NLC).", "chr_id": "19", "chr_pos": "56570350", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K13", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q6ECI4-1.23.23", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766635498", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766635498", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766635498", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766635498", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766635498", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766635498#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766635498", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766635498", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "STLGKNWKCEDLFERELVNQ", "down_seq": "THFRQETITHIDTLIEKRDH", "snv": [ { "evidence": [ { "id": "rs766635498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766635498" }, { "id": "rs766635498", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766635498" }, { "id": "rs766635498", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766635498#frequency_tab" }, { "id": "rs766635498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766635498" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQK->NQT).", "chr_id": "19", "chr_pos": "56576887", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K153", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q6ECI4-1.160.160", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.160.160", "start_pos": 160, "end_pos": 160, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1467937057", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467937057", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1467937057", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467937057", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KCEDLFERELVNQKTHFRQE", "down_seq": "ITHIDTLIEKRDHSNKSGTV", "snv": [ { "evidence": [ { "id": "rs1467937057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467937057" }, { "id": "rs1467937057", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467937057" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TIT->NIT).", "chr_id": "19", "chr_pos": "56576908", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T160", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q6ECI4-1.153.153", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.206.206", "start_pos": 206, "end_pos": 206, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2044493724", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044493724", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2044493724", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044493724#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2044493724", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2044493724", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LSYIKQIFPMEERIFNFHTD", "down_seq": "KSLKTHSVVKKHKQDRGEKK", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" }, { "id": "rs2044493724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044493724" }, { "id": "rs2044493724", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044493724#frequency_tab" }, { "id": "rs2044493724", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2044493724" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "19", "chr_pos": "56577047", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K206", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "SQEEVEVAGIKLCKAMSLGS", "down_seq": "TFTDVAIDFSQDEWEWLNLA", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "56574400", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V23", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6ECI4-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6ECI4-1.43.43", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EKIFSKISTLTLHQRIHTGE", "down_seq": "PYECIECGKAFSQSAHLAQH", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "56577190", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K254", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q6ECI4-1.266.266", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.266.266", "start_pos": 266, "end_pos": 266, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1600568738", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1600568738", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1600568738", "url": "https://www.ensembl.org/id/rs1600568738", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HQRIHTGEKPYECIECGKAF", "down_seq": "QSAHLAQHQRIHTGEKPFEC", "snv": [ { "evidence": [ { "id": "rs1600568738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1600568738" }, { "id": "rs1600568738", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1600568738" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "19", "chr_pos": "56577226", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S266", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q6ECI4-1.254.254", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1019096158", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019096158", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1019096158", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1019096158#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1019096158", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1019096158", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QSAHLAQHQRIHTGEKPFEC", "down_seq": "ECGKAFSQNAHLVQHQRVHT", "snv": [ { "evidence": [ { "id": "rs1019096158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019096158" }, { "id": "rs1019096158", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1019096158#frequency_tab" }, { "id": "rs1019096158", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1019096158" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TEC->NEC).", "chr_id": "19", "chr_pos": "56577289", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T287", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2044497298", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044497298", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2044497298", "url": "https://www.ensembl.org/id/rs2044497298", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2044497298", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2044497298", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VQHQRVHTGEKPYQCKQCNK", "down_seq": "FSQLAHLAQHQRVHTGEKPY", "snv": [ { "evidence": [ { "id": "rs2044497298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044497298" }, { "id": "rs2044497298", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2044497298" }, { "id": "rs2044497298", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2044497298" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKS).", "chr_id": "19", "chr_pos": "56577387", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A320", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.350.350", "start_pos": 350, "end_pos": 350, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs937203939", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs937203939", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs937203939", "url": "https://www.ncbi.nlm.nih.gov/snp/rs937203939#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HQRVHTGEKPYECIECGKAF", "down_seq": "DCSSLAHHRRIHTGKRPYEC", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" }, { "id": "rs937203939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs937203939" }, { "id": "rs937203939", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs937203939#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SDC->NDC).", "chr_id": "19", "chr_pos": "56577478", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S350", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q6ECI4-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q6ECI4-1.366.366", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.361.361", "start_pos": 361, "end_pos": 361, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768735461", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768735461", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768735461", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768735461", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768735461", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768735461", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ECIECGKAFSDCSSLAHHRR", "down_seq": "HTGKRPYECIDCGKAFRQNA", "snv": [ { "evidence": [ { "id": "rs768735461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768735461" }, { "id": "rs768735461", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768735461" }, { "id": "rs768735461", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768735461" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IHT->NHT).", "chr_id": "19", "chr_pos": "56577511", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I361", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6ECI4-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6ECI4-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6ECI4-1.380.380", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.366.366", "start_pos": 366, "end_pos": 366, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GKAFSDCSSLAHHRRIHTGK", "down_seq": "PYECIDCGKAFRQNASLIRH", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56577526", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R366", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q6ECI4-1.350.350", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q6ECI4-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6ECI4-1.380.380", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6ECI4-1.385.385", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KRPYECIDCGKAFRQNASLI", "down_seq": "HRRYYHTGEKPFDCIDCGKA", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "56577583", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R385", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6ECI4-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q6ECI4-1.380.380", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6ECI4-1.390.390", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.390.390", "start_pos": 390, "end_pos": 390, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1568495856", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568495856", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1568495856", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1568495856#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CIDCGKAFRQNASLIRHRRY", "down_seq": "HTGEKPFDCIDCGKAFTDHI", "snv": [ { "evidence": [ { "id": "rs1568495856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568495856" }, { "id": "rs1568495856", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1568495856#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YHT->NHT).", "chr_id": "19", "chr_pos": "56577597", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y390", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6ECI4-1.380.380", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q6ECI4-1.385.385", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.417.417", "start_pos": 417, "end_pos": 417, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FDCIDCGKAFTDHIGLIQHK", "down_seq": "THTGERPYKCNVCGKAFSHG", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "56577679", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R417", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs202028451", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202028451", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs202028451", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202028451", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs202028451", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202028451#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs202028451", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202028451", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs202028451", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202028451", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VTFTDVAIDFSQDEWEWLNL", "down_seq": "QRSLYKKVMLENYRNLVSVG", "snv": [ { "evidence": [ { "id": "rs202028451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202028451" }, { "id": "rs202028451", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202028451" }, { "id": "rs202028451", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202028451#frequency_tab" }, { "id": "rs202028451", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202028451" }, { "id": "rs202028451", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202028451" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "19", "chr_pos": "56574460", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A43", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6ECI4-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6ECI4-1.57.57", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.515.515", "start_pos": 515, "end_pos": 515, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1019155552", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019155552", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1019155552", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1019155552#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1019155552", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1019155552", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HLAHHQRIHTGEKPYECKEC", "down_seq": "KTFSQNAHLAQHQKIHTGEK", "snv": [ { "evidence": [ { "id": "rs1019155552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019155552" }, { "id": "rs1019155552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1019155552#frequency_tab" }, { "id": "rs1019155552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1019155552" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SKT->NKT).", "chr_id": "19", "chr_pos": "56577973", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S515", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.557.557", "start_pos": 557, "end_pos": 557, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YECKECGKAFSQIAHLVQHQ", "down_seq": "VHTGEKPYECIECGKAFSDG", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56578099", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R557", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q6ECI4-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6ECI4-1.576.576", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.566.566", "start_pos": 566, "end_pos": 566, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "FSQIAHLVQHQRVHTGEKPY", "down_seq": "CIECGKAFSDGSYLVQHQRL", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "5", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56578125", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E566", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6ECI4-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6ECI4-1.576.576", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.576.576", "start_pos": 576, "end_pos": 576, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QRVHTGEKPYECIECGKAFS", "down_seq": "GSYLVQHQRLHSGKRPYECL", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "19", "chr_pos": "56578155", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D576", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6ECI4-1.557.557", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q6ECI4-1.566.566", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q6ECI4-1.592.592", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.57.57", "start_pos": 57, "end_pos": 57, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "WEWLNLAQRSLYKKVMLENY", "down_seq": "NLVSVGLCISKPDVISLLEQ", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NYR->NYS).", "chr_id": "19", "chr_pos": "56574504", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R57", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q6ECI4-1.43.43", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.592.592", "start_pos": 592, "end_pos": 592, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KAFSDGSYLVQHQRLHSGKR", "down_seq": "YECLECGKAFRQRASLICHQ", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56578204", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P592", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q6ECI4-1.576.576", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.633.633", "start_pos": 633, "end_pos": 633, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RCHTGEKPYECNVCGKAFSH", "down_seq": "KSLTLHQRIHTGEKPYECKE", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "56578326", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R633", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "56578327", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R633", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q6ECI4-1.642.642", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.642.642", "start_pos": 642, "end_pos": 642, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ECNVCGKAFSHRKSLTLHQR", "down_seq": "HTGEKPYECKECSKAFSQVA", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (IHT->NHT).", "chr_id": "19", "chr_pos": "56578354", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I642", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6ECI4-1.633.633", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.663.663", "start_pos": 663, "end_pos": 663, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ECI4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HTGEKPYECKECSKAFSQVA", "down_seq": "LTLHKRIHTGERPYECKECG", "snv": [ { "evidence": [ { "id": "Q6ECI4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ECI4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HLT->NLT).", "chr_id": "19", "chr_pos": "56578416", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H663", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q6ECI4-1.677.677", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.677.677", "start_pos": 677, "end_pos": 677, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768321279", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768321279", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768321279", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768321279", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768321279", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768321279", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AFSQVAHLTLHKRIHTGERP", "down_seq": "ECKECGKAFRQSVHLAHHQR", "snv": [ { "evidence": [ { "id": "rs768321279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768321279" }, { "id": "rs768321279", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768321279" }, { "id": "rs768321279", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768321279" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YEC->NEC).", "chr_id": "19", "chr_pos": "56578458", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y677", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q6ECI4-1.663.663", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746471446", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746471446", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746471446", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746471446", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746471446", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746471446#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs746471446", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746471446", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VISLLEQEKDPWVIKGGMNR", "down_seq": "LCPDLECVWVTKSLSLNQDI", "snv": [ { "evidence": [ { "id": "rs746471446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746471446" }, { "id": "rs746471446", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746471446" }, { "id": "rs746471446", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746471446#frequency_tab" }, { "id": "rs746471446", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746471446" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRG->NRS).", "chr_id": "19", "chr_pos": "56574721", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G91", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ECI4-1.700.700", "start_pos": 700, "end_pos": 700, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] } ], "crossref": [ { "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KECGKAFRQSVHLAHHQRIH", "down_seq": "GESSVILSSALPYHQVL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Thr700" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6ECI4-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6ECI4-1.708.708", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6ECI4-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q6ECI4-1.713.713", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ECI4-1.704.704", "start_pos": 704, "end_pos": 704, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] } ], "crossref": [ { "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KAFRQSVHLAHHQRIHTGES", "down_seq": "VILSSALPYHQVL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser704" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6ECI4-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6ECI4-1.708.708", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6ECI4-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6ECI4-1.713.713", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ECI4-1.708.708", "start_pos": 708, "end_pos": 708, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] } ], "crossref": [ { "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QSVHLAHHQRIHTGESSVIL", "down_seq": "SALPYHQVL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser708" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6ECI4-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6ECI4-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6ECI4-1.709.709", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6ECI4-1.713.713", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ECI4-1.709.709", "start_pos": 709, "end_pos": 709, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] } ], "crossref": [ { "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVHLAHHQRIHTGESSVILS", "down_seq": "ALPYHQVL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser709" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6ECI4-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q6ECI4-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6ECI4-1.708.708", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6ECI4-1.713.713", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ECI4-1.713.713", "start_pos": 713, "end_pos": 713, "uniprot_canonical_ac": "Q6ECI4-1", "length": 717, "uniprot_id": "ZN470_HUMAN", "protein_name": "Zinc finger protein 470", "refseq_ac": "NP_001001668", "refseq_name": "zinc finger protein 470", "gene_name": "ZNF470", "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ECI4", "url": "https://www.uniprot.org/uniprotkb/Q6ECI4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] } ], "crossref": [ { "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AHHQRIHTGESSVILSSALP", "down_seq": "HQVL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6ECI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ECI4" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Tyr713" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "380", "end_pos": "380" } ] }, { "type": "snv", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "153", "end_pos": "153" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "350", "end_pos": "350" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "417", "end_pos": "417" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "557", "end_pos": "557" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "576", "end_pos": "576" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "633", "end_pos": "633" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "663", "end_pos": "663" }, { "start_pos": "677", "end_pos": "677" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "700", "end_pos": "700" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "709", "end_pos": "709" }, { "start_pos": "713", "end_pos": "713" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q6ECI4-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q6ECI4-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q6ECI4-1.708.708", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6ECI4-1.709.709", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y2Y4-1.317.317", "start_pos": 317, "end_pos": 317, "uniprot_canonical_ac": "Q9Y2Y4-1", "length": 487, "uniprot_id": "ZBT32_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 32", "refseq_ac": "NP_001303831", "refseq_name": "zinc finger and BTB domain-containing protein 32 isoform 2", "gene_name": "ZBTB32", "gene_names_uniprotkb": "ZBTB32; FAZF; TZFP; ZNF538", "gene_names_refseq": "FAXF; FAZF; Rog; TZFP; ZBTB32; ZNF538; mynn", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9Y2Y4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "Q9Y2Y4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2Y4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs747749454", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747749454", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747749454", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747749454", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747749454", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747749454", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs747749454", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747749454", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LSLNAPKGLWSQNQLASSSP", "down_seq": "PGSLPQGPAQLSPGEMEESD", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr317", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q9Y2Y4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2Y4" }, { "id": "rs747749454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747749454" }, { "id": "rs747749454", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747749454" }, { "id": "rs747749454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747749454" }, { "id": "rs747749454", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747749454" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "19", "chr_pos": "35715825", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T317", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "317", "end_pos": "317" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "42", "end_pos": "42" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9Y2Y4-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2Y4-1.320.320", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2Y4-1.329.329", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2Y4-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "Q9Y2Y4-1", "length": 487, "uniprot_id": "ZBT32_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 32", "refseq_ac": "NP_001303831", "refseq_name": "zinc finger and BTB domain-containing protein 32 isoform 2", "gene_name": "ZBTB32", "gene_names_uniprotkb": "ZBTB32; FAZF; TZFP; ZNF538", "gene_names_refseq": "FAXF; FAZF; Rog; TZFP; ZBTB32; ZNF538; mynn", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9Y2Y4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y2Y4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2Y4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y2Y4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2Y4" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y2Y4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2Y4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NAPKGLWSQNQLASSSPTPG", "down_seq": "LPQGPAQLSPGEMEESDQGH", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser320", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9Y2Y4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2Y4" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "317", "end_pos": "317" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "42", "end_pos": "42" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2Y4-1.302.302", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2Y4-1.317.317", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2Y4-1.329.329", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y2Y4-1.329.329", "start_pos": 329, "end_pos": 329, "uniprot_canonical_ac": "Q9Y2Y4-1", "length": 487, "uniprot_id": "ZBT32_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 32", "refseq_ac": "NP_001303831", "refseq_name": "zinc finger and BTB domain-containing protein 32 isoform 2", "gene_name": "ZBTB32", "gene_names_uniprotkb": "ZBTB32; FAZF; TZFP; ZNF538", "gene_names_refseq": "FAXF; FAZF; Rog; TZFP; ZBTB32; ZNF538; mynn", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9Y2Y4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y2Y4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2Y4" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9Y2Y4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2Y4" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y2Y4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2Y4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs1968869496", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1968869496", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1968869496", "url": "https://www.ensembl.org/id/rs1968869496", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NQLASSSPTPGSLPQGPAQL", "down_seq": "PGEMEESDQGHTGALATCAG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser329", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9Y2Y4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2Y4" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "snv": [ { "evidence": [ { "id": "rs1968869496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1968869496" }, { "id": "rs1968869496", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1968869496" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "19", "chr_pos": "35715968", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S329", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "317", "end_pos": "317" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "42", "end_pos": "42" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9Y2Y4-1.317.317", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2Y4-1.320.320", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y2Y4-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "Q9Y2Y4-1", "length": 487, "uniprot_id": "ZBT32_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 32", "refseq_ac": "NP_001303831", "refseq_name": "zinc finger and BTB domain-containing protein 32 isoform 2", "gene_name": "ZBTB32", "gene_names_uniprotkb": "ZBTB32; FAZF; TZFP; ZNF538", "gene_names_refseq": "FAXF; FAZF; Rog; TZFP; ZBTB32; ZNF538; mynn", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9Y2Y4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754442059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754442059", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754442059", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754442059", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754442059", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754442059", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EKQKPEQVSRTGGREQEMLH", "down_seq": "HSPPRGRPEMAGATQEAQQE", "snv": [ { "evidence": [ { "id": "rs754442059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754442059" }, { "id": "rs754442059", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754442059" }, { "id": "rs754442059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754442059" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KHS->NHS).", "chr_id": "19", "chr_pos": "35715127", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K167", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "317", "end_pos": "317" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "42", "end_pos": "42" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2Y4-1.302.302", "start_pos": 302, "end_pos": 302, "uniprot_canonical_ac": "Q9Y2Y4-1", "length": 487, "uniprot_id": "ZBT32_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 32", "refseq_ac": "NP_001303831", "refseq_name": "zinc finger and BTB domain-containing protein 32 isoform 2", "gene_name": "ZBTB32", "gene_names_uniprotkb": "ZBTB32; FAZF; TZFP; ZNF538", "gene_names_refseq": "FAXF; FAZF; Rog; TZFP; ZBTB32; ZNF538; mynn", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9Y2Y4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1282110353", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282110353", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1282110353", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282110353", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TTGAWQEVWREQRIPLSLNA", "down_seq": "KGLWSQNQLASSSPTPGSLP", "snv": [ { "evidence": [ { "id": "rs1282110353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282110353" }, { "id": "rs1282110353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282110353" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "19", "chr_pos": "35715779", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P302", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "317", "end_pos": "317" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "42", "end_pos": "42" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q9Y2Y4-1.317.317", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2Y4-1.320.320", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2Y4-1.427.427", "start_pos": 427, "end_pos": 427, "uniprot_canonical_ac": "Q9Y2Y4-1", "length": 487, "uniprot_id": "ZBT32_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 32", "refseq_ac": "NP_001303831", "refseq_name": "zinc finger and BTB domain-containing protein 32 isoform 2", "gene_name": "ZBTB32", "gene_names_uniprotkb": "ZBTB32; FAZF; TZFP; ZNF538", "gene_names_refseq": "FAXF; FAZF; Rog; TZFP; ZBTB32; ZNF538; mynn", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9Y2Y4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2Y4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2Y4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PQRSRDFSAMTKHLRTHGAA", "down_seq": "YRCSLCGAGCPSLASMQAHM", "snv": [ { "evidence": [ { "id": "Q9Y2Y4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2Y4" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35716567", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P427", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "317", "end_pos": "317" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "42", "end_pos": "42" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2Y4-1.42.42", "start_pos": 42, "end_pos": 42, "uniprot_canonical_ac": "Q9Y2Y4-1", "length": 487, "uniprot_id": "ZBT32_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 32", "refseq_ac": "NP_001303831", "refseq_name": "zinc finger and BTB domain-containing protein 32 isoform 2", "gene_name": "ZBTB32", "gene_names_uniprotkb": "ZBTB32; FAZF; TZFP; ZNF538", "gene_names_refseq": "FAXF; FAZF; Rog; TZFP; ZBTB32; ZNF538; mynn", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9Y2Y4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2Y4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2Y4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ARLRPALCDTLITVGSQEFP", "down_seq": "HSLVLAGVSQQLGRRGQWAL", "snv": [ { "evidence": [ { "id": "Q9Y2Y4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2Y4" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35714750", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A42", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "317", "end_pos": "317" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "329", "end_pos": "329" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "42", "end_pos": "42" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P280-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q6P280-1", "length": 563, "uniprot_id": "ZN529_HUMAN", "protein_name": "Zinc finger protein 529", "refseq_ac": "NP_001139121", "refseq_name": "zinc finger protein 529 isoform a", "gene_name": "ZNF529", "gene_names_uniprotkb": "ZNF529; KIAA1615", "gene_names_refseq": "ZNF529", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P280", "url": "https://www.uniprot.org/uniprotkb/Q6P280" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6P280", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P280" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6P280", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P280", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6P280", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P280" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "385", "end_pos": "385" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6P280-1.125.125", "start_pos": 125, "end_pos": 125, "uniprot_canonical_ac": "Q6P280-1", "length": 563, "uniprot_id": "ZN529_HUMAN", "protein_name": "Zinc finger protein 529", "refseq_ac": "NP_001139121", "refseq_name": "zinc finger protein 529 isoform a", "gene_name": "ZNF529", "gene_names_uniprotkb": "ZNF529; KIAA1615", "gene_names_refseq": "ZNF529", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P280", "url": "https://www.uniprot.org/uniprotkb/Q6P280" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P280", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VMESSKLCGLEGSIFRNDWQ", "down_seq": "KSKIDLQGPEVGYFSQMKII", "snv": [ { "evidence": [ { "id": "Q6P280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "36548183", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S125", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "385", "end_pos": "385" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q6P280-1.131.131", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P280-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "Q6P280-1", "length": 563, "uniprot_id": "ZN529_HUMAN", "protein_name": "Zinc finger protein 529", "refseq_ac": "NP_001139121", "refseq_name": "zinc finger protein 529 isoform a", "gene_name": "ZNF529", "gene_names_uniprotkb": "ZNF529; KIAA1615", "gene_names_refseq": "ZNF529", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P280", "url": "https://www.uniprot.org/uniprotkb/Q6P280" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P280", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LCGLEGSIFRNDWQSKSKID", "down_seq": "QGPEVGYFSQMKIISENVPS", "snv": [ { "evidence": [ { "id": "Q6P280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "16", "frequency": "0.3", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient count (16/4799).", "chr_id": "19", "chr_pos": "36548167", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L131", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "385", "end_pos": "385" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q6P280-1.125.125", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P280-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "Q6P280-1", "length": 563, "uniprot_id": "ZN529_HUMAN", "protein_name": "Zinc finger protein 529", "refseq_ac": "NP_001139121", "refseq_name": "zinc finger protein 529 isoform a", "gene_name": "ZNF529", "gene_names_uniprotkb": "ZNF529; KIAA1615", "gene_names_refseq": "ZNF529", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P280", "url": "https://www.uniprot.org/uniprotkb/Q6P280" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P280", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MKIISENVPSYKTHESLTLP", "down_seq": "RTHDSEKPYEYKEYEKVFSC", "snv": [ { "evidence": [ { "id": "Q6P280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "36548074", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R162", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "385", "end_pos": "385" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P280-1.286.286", "start_pos": 286, "end_pos": 286, "uniprot_canonical_ac": "Q6P280-1", "length": 563, "uniprot_id": "ZN529_HUMAN", "protein_name": "Zinc finger protein 529", "refseq_ac": "NP_001139121", "refseq_name": "zinc finger protein 529 isoform a", "gene_name": "ZNF529", "gene_names_uniprotkb": "ZNF529; KIAA1615", "gene_names_refseq": "ZNF529", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P280", "url": "https://www.uniprot.org/uniprotkb/Q6P280" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P280", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "VGKVTPLQRVHDGEKHFECS", "down_seq": "CGKSFRVHAQLTRHQKIHTD", "snv": [ { "evidence": [ { "id": "Q6P280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "36547700", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F286", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "385", "end_pos": "385" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q6P280-1.299.299", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P280-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "Q6P280-1", "length": 563, "uniprot_id": "ZN529_HUMAN", "protein_name": "Zinc finger protein 529", "refseq_ac": "NP_001139121", "refseq_name": "zinc finger protein 529 isoform a", "gene_name": "ZNF529", "gene_names_uniprotkb": "ZNF529; KIAA1615", "gene_names_refseq": "ZNF529", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P280", "url": "https://www.uniprot.org/uniprotkb/Q6P280" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P280", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EKHFECSFCGKSFRVHAQLT", "down_seq": "HQKIHTDEKTYKCMECGKDF", "snv": [ { "evidence": [ { "id": "Q6P280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "36547662", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R299", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "385", "end_pos": "385" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q6P280-1.286.286", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6P280-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "Q6P280-1", "length": 563, "uniprot_id": "ZN529_HUMAN", "protein_name": "Zinc finger protein 529", "refseq_ac": "NP_001139121", "refseq_name": "zinc finger protein 529 isoform a", "gene_name": "ZNF529", "gene_names_uniprotkb": "ZNF529; KIAA1615", "gene_names_refseq": "ZNF529", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P280", "url": "https://www.uniprot.org/uniprotkb/Q6P280" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P280", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "PYACKECGKAFGVCRELARH", "down_seq": "RIHTGKKPYECKACGKVFRN", "snv": [ { "evidence": [ { "id": "Q6P280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P280" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "Q", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "36547404", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q385", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "125", "end_pos": "125" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "299", "end_pos": "299" }, { "start_pos": "385", "end_pos": "385" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NS1-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q96NS1-1", "length": 127, "uniprot_id": "YPEL4_HUMAN", "protein_name": "Protein yippee-like 4", "refseq_ac": "NP_659445", "refseq_name": "protein yippee-like 4", "gene_name": "YPEL4", "gene_names_uniprotkb": "YPEL4; YPEL", "gene_names_refseq": "YPEL4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NS1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NS1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MPSCDPG", "down_seq": "GPACLPTKTFRSYLPRCHRT", "snv": [ { "evidence": [ { "id": "Q96NS1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96NS1" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "11", "chr_pos": "57647086", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P8", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NS1-1.92.92", "start_pos": 92, "end_pos": 92, "uniprot_canonical_ac": "Q96NS1-1", "length": 127, "uniprot_id": "YPEL4_HUMAN", "protein_name": "Protein yippee-like 4", "refseq_ac": "NP_659445", "refseq_name": "protein yippee-like 4", "gene_name": "YPEL4", "gene_names_uniprotkb": "YPEL4; YPEL", "gene_names_refseq": "YPEL4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QRLLLTGLHSVADIFCESCK", "down_seq": "TLGWKYEQAFETSQKYKEGK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1" } ], "site_lbl": "Thr92" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q96NS1-1.93.93", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q96NS1-1.98.98", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NS1-1.93.93", "start_pos": 93, "end_pos": 93, "uniprot_canonical_ac": "Q96NS1-1", "length": 127, "uniprot_id": "YPEL4_HUMAN", "protein_name": "Protein yippee-like 4", "refseq_ac": "NP_659445", "refseq_name": "protein yippee-like 4", "gene_name": "YPEL4", "gene_names_uniprotkb": "YPEL4; YPEL", "gene_names_refseq": "YPEL4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RLLLTGLHSVADIFCESCKT", "down_seq": "LGWKYEQAFETSQKYKEGKY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1" } ], "site_lbl": "Thr93" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q96NS1-1.92.92", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q96NS1-1.98.98", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96NS1-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "Q96NS1-1", "length": 127, "uniprot_id": "YPEL4_HUMAN", "protein_name": "Protein yippee-like 4", "refseq_ac": "NP_659445", "refseq_name": "protein yippee-like 4", "gene_name": "YPEL4", "gene_names_uniprotkb": "YPEL4; YPEL", "gene_names_refseq": "YPEL4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GLHSVADIFCESCKTTLGWK", "down_seq": "EQAFETSQKYKEGKYIIEMS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q96NS1", "url": "https://www.uniprot.org/uniprotkb/Q96NS1" } ], "site_lbl": "Tyr98" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "92", "end_pos": "92" }, { "start_pos": "93", "end_pos": "93" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q96NS1-1.92.92", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q96NS1-1.93.93", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PML9-1.541.541", "start_pos": 541, "end_pos": 541, "uniprot_canonical_ac": "Q6PML9-1", "length": 568, "uniprot_id": "ZNT9_HUMAN", "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": "NP_006336", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PML9", "url": "https://www.uniprot.org/uniprotkb/Q6PML9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Systematic Evaluation of Affinity Enrichment Methods for O-GlcNAc Proteomics.", "journal": "Journal of proteome research", "date": "2024-10-04", "authors": "Hou Chunyan, Wu Ci, Wu Zichun, Cheng Yifan, Li Weiyu, Sun Hui, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6PML9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PML9" }, { "database": "O-GlcNAc Atlas", "id": "Q6PML9", "url": "https://oglcnac.org/atlas/detail/Q6PML9" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] } ], "crossref": [ { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6PML9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PML9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q6PML9", "url": "https://oglcnac.org/atlas/detail/Q6PML9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs985599986", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs985599986", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs985599986", "url": "https://www.ensembl.org/id/rs985599986", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q6PML9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VKTPEELETFMLKHGENIID", "down_seq": "LGAEVDRLEKELKKRNPEVR", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr541", "evidence": [ { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "Q6PML9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PML9" }, { "id": "Q6PML9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6PML9" } ] } ], "snv": [ { "evidence": [ { "id": "rs985599986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs985599986" }, { "id": "rs985599986", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs985599986" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "4", "chr_pos": "42078284", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T541", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q6PML9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "42078285", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T541", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] }, { "type": "snv", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q6PML9-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6PML9-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6PML9-1.561.561", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6PML9-1.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "Q6PML9-1", "length": 568, "uniprot_id": "ZNT9_HUMAN", "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": "NP_006336", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PML9", "url": "https://www.uniprot.org/uniprotkb/Q6PML9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PML9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs375750615", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375750615", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs375750615", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375750615", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs375750615", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375750615#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs375750615", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375750615", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GISKSVQTPDPSHPYGFSNM", "down_seq": "YISSLISGVGIFMMGAGLSW", "snv": [ { "evidence": [ { "id": "Q6PML9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9" }, { "id": "rs375750615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375750615" }, { "id": "rs375750615", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375750615" }, { "id": "rs375750615", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375750615#frequency_tab" }, { "id": "rs375750615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375750615" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NMR->NMC).", "chr_id": "4", "chr_pos": "42063005", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R306", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] }, { "type": "snv", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PML9-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "Q6PML9-1", "length": 568, "uniprot_id": "ZNT9_HUMAN", "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": "NP_006336", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PML9", "url": "https://www.uniprot.org/uniprotkb/Q6PML9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1231453782", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231453782", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1231453782", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1231453782", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RCSWSSLCRLRLRCRAAACN", "down_seq": "SDRQEWQNLVTFGSFSNMVP", "snv": [ { "evidence": [ { "id": "rs1231453782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231453782" }, { "id": "rs1231453782", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1231453782" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NAS).", "chr_id": "4", "chr_pos": "41990745", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P32", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] }, { "type": "snv", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PML9-1.461.461", "start_pos": 461, "end_pos": 461, "uniprot_canonical_ac": "Q6PML9-1", "length": 568, "uniprot_id": "ZNT9_HUMAN", "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": "NP_006336", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PML9", "url": "https://www.uniprot.org/uniprotkb/Q6PML9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PML9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LIYTNTEALLGRSIQPEQVQ", "down_seq": "LTELLENDPSVRAIHDVKAT", "snv": [ { "evidence": [ { "id": "Q6PML9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "42070654", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R461", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] }, { "type": "snv", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q6PML9-1.470.470", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PML9-1.470.470", "start_pos": 470, "end_pos": 470, "uniprot_canonical_ac": "Q6PML9-1", "length": 568, "uniprot_id": "ZNT9_HUMAN", "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": "NP_006336", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PML9", "url": "https://www.uniprot.org/uniprotkb/Q6PML9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs977866047", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977866047", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs977866047", "url": "https://www.ncbi.nlm.nih.gov/snp/rs977866047#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LGRSIQPEQVQRLTELLEND", "down_seq": "SVRAIHDVKATDLGLGKVRF", "snv": [ { "evidence": [ { "id": "rs977866047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977866047" }, { "id": "rs977866047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs977866047#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDP->NDS).", "chr_id": "4", "chr_pos": "42070681", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P470", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] }, { "type": "snv", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6PML9-1.461.461", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PML9-1.536.536", "start_pos": 536, "end_pos": 536, "uniprot_canonical_ac": "Q6PML9-1", "length": 568, "uniprot_id": "ZNT9_HUMAN", "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": "NP_006336", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PML9", "url": "https://www.uniprot.org/uniprotkb/Q6PML9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PML9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "QEIQEVKTPEELETFMLKHG", "down_seq": "NIIDTLGAEVDRLEKELKKR", "snv": [ { "evidence": [ { "id": "Q6PML9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "4", "chr_pos": "42078269", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E536", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] }, { "type": "snv", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q6PML9-1.539.539", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6PML9-1.541.541", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PML9-1.539.539", "start_pos": 539, "end_pos": 539, "uniprot_canonical_ac": "Q6PML9-1", "length": 568, "uniprot_id": "ZNT9_HUMAN", "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": "NP_006336", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PML9", "url": "https://www.uniprot.org/uniprotkb/Q6PML9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PML9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1395765025", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1395765025", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1395765025", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1395765025#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1395765025", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1395765025", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QEVKTPEELETFMLKHGENI", "down_seq": "DTLGAEVDRLEKELKKRNPE", "snv": [ { "evidence": [ { "id": "Q6PML9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NII->NIS).", "chr_id": "4", "chr_pos": "42078279", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I539", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1395765025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1395765025" }, { "id": "rs1395765025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1395765025#frequency_tab" }, { "id": "rs1395765025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1395765025" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "4", "chr_pos": "42078279", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I539", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] }, { "type": "snv", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q6PML9-1.536.536", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6PML9-1.541.541", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PML9-1.561.561", "start_pos": 561, "end_pos": 561, "uniprot_canonical_ac": "Q6PML9-1", "length": 568, "uniprot_id": "ZNT9_HUMAN", "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": "NP_006336", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PML9", "url": "https://www.uniprot.org/uniprotkb/Q6PML9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PML9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TLGAEVDRLEKELKKRNPEV", "down_seq": "HVDLEIL", "snv": [ { "evidence": [ { "id": "Q6PML9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "42086100", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R561", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] }, { "type": "snv", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6PML9-1.541.541", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PML9-1.97.97", "start_pos": 97, "end_pos": 97, "uniprot_canonical_ac": "Q6PML9-1", "length": 568, "uniprot_id": "ZNT9_HUMAN", "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": "NP_006336", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PML9", "url": "https://www.uniprot.org/uniprotkb/Q6PML9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PML9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GSQTLRVEKVPSFETAEGIG", "down_seq": "ELKAPLKQEPLQVRVKAVLK", "snv": [ { "evidence": [ { "id": "Q6PML9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PML9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "14", "frequency": "0.3", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: patient count (14/4799).", "chr_id": "4", "chr_pos": "42018125", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T97", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "541", "end_pos": "541" } ] }, { "type": "snv", "site_list": [ { "start_pos": "306", "end_pos": "306" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "461", "end_pos": "461" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "536", "end_pos": "536" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "541", "end_pos": "541" }, { "start_pos": "561", "end_pos": "561" }, { "start_pos": "97", "end_pos": "97" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O75312-1.316.316", "start_pos": 316, "end_pos": 316, "uniprot_canonical_ac": "O75312-1", "length": 459, "uniprot_id": "ZPR1_HUMAN", "protein_name": "Zinc finger protein ZPR1", "refseq_ac": "NP_001304015", "refseq_name": "zinc finger protein ZPR1 isoform 2", "gene_name": "ZPR1", "gene_names_uniprotkb": "ZPR1; ZNF259", "gene_names_refseq": "GKAF; ZNF259; ZPR1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75312", "url": "https://www.uniprot.org/uniprotkb/O75312" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Rapid and large-scale glycopeptide enrichment strategy based on chemical ligation.", "journal": "National science review", "date": "2024-11", "authors": "Xiong Yingying, Lu Zhuoer, Shao Yuyin, Meng Peiyi, Wang Guoli, Zhou Xinwen, Yao Jun, Bao Huimin, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O75312", "url": "https://oglcnac.org/atlas/detail/O75312" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O75312", "url": "https://oglcnac.org/atlas/detail/O75312", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1940840979", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1940840979", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1940840979", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1940840979#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NEVKSGGAVEPLGTRITLHI", "down_seq": "DASDMTRDLLKSETCSVEIP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr316", "evidence": [ { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "O75312", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75312" } ] } ], "snv": [ { "evidence": [ { "id": "rs1940840979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1940840979" }, { "id": "rs1940840979", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1940840979#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "11", "chr_pos": "116783565", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T316", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "316", "end_pos": "316" } ] }, { "type": "snv", "site_list": [ { "start_pos": "260", "end_pos": "260" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "55", "end_pos": "55" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O75312-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "O75312-1", "length": 459, "uniprot_id": "ZPR1_HUMAN", "protein_name": "Zinc finger protein ZPR1", "refseq_ac": "NP_001304015", "refseq_name": "zinc finger protein ZPR1 isoform 2", "gene_name": "ZPR1", "gene_names_uniprotkb": "ZPR1; ZNF259", "gene_names_refseq": "GKAF; ZNF259; ZPR1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75312", "url": "https://www.uniprot.org/uniprotkb/O75312" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75312", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75312" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75312", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75312" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75312", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75312" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75312", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75312" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] }, { "id": "O75312", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75312", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" }, { "id": "O75312", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75312" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "316", "end_pos": "316" } ] }, { "type": "snv", "site_list": [ { "start_pos": "260", "end_pos": "260" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "55", "end_pos": "55" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "O75312-1.260.260", "start_pos": 260, "end_pos": 260, "uniprot_canonical_ac": "O75312-1", "length": 459, "uniprot_id": "ZPR1_HUMAN", "protein_name": "Zinc finger protein ZPR1", "refseq_ac": "NP_001304015", "refseq_name": "zinc finger protein ZPR1 isoform 2", "gene_name": "ZPR1", "gene_names_uniprotkb": "ZPR1; ZNF259", "gene_names_refseq": "GKAF; ZNF259; ZPR1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75312", "url": "https://www.uniprot.org/uniprotkb/O75312" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O75312", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O75312", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs746586209", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746586209", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746586209", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746586209", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746586209", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746586209", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "AEKPEEEDLRNEVLQFSTNC", "down_seq": "ECNAPAQTNMKLVQIPHFKE", "snv": [ { "evidence": [ { "id": "O75312", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O75312" }, { "id": "rs746586209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746586209" }, { "id": "rs746586209", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746586209" }, { "id": "rs746586209", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746586209" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NCP->NCS).", "chr_id": "11", "chr_pos": "116784897", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P260", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "316", "end_pos": "316" } ] }, { "type": "snv", "site_list": [ { "start_pos": "260", "end_pos": "260" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "55", "end_pos": "55" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O75312-1.337.337", "start_pos": 337, "end_pos": 337, "uniprot_canonical_ac": "O75312-1", "length": 459, "uniprot_id": "ZPR1_HUMAN", "protein_name": "Zinc finger protein ZPR1", "refseq_ac": "NP_001304015", "refseq_name": "zinc finger protein ZPR1 isoform 2", "gene_name": "ZPR1", "gene_names_uniprotkb": "ZPR1; ZNF259", "gene_names_refseq": "GKAF; ZNF259; ZPR1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75312", "url": "https://www.uniprot.org/uniprotkb/O75312" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O75312", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O75312", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "DASDMTRDLLKSETCSVEIP", "down_seq": "LEFELGMAVLGGKFTTLEGL", "snv": [ { "evidence": [ { "id": "O75312", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O75312" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "116783000", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E337", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "316", "end_pos": "316" } ] }, { "type": "snv", "site_list": [ { "start_pos": "260", "end_pos": "260" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "55", "end_pos": "55" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O75312-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "O75312-1", "length": 459, "uniprot_id": "ZPR1_HUMAN", "protein_name": "Zinc finger protein ZPR1", "refseq_ac": "NP_001304015", "refseq_name": "zinc finger protein ZPR1 isoform 2", "gene_name": "ZPR1", "gene_names_uniprotkb": "ZPR1; ZNF259", "gene_names_refseq": "GKAF; ZNF259; ZPR1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75312", "url": "https://www.uniprot.org/uniprotkb/O75312" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "O75312", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O75312", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1237258872", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237258872", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1237258872", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237258872#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1237258872", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237258872", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LEGLLKDIRELVTKNPFTLG", "down_seq": "SSNPGQTERLQEFSQKMDQI", "snv": [ { "evidence": [ { "id": "O75312", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O75312" }, { "id": "rs1237258872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237258872" }, { "id": "rs1237258872", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237258872#frequency_tab" }, { "id": "rs1237258872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237258872" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "11", "chr_pos": "116782217", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D374", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "316", "end_pos": "316" } ] }, { "type": "snv", "site_list": [ { "start_pos": "260", "end_pos": "260" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "55", "end_pos": "55" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O75312-1.418.418", "start_pos": 418, "end_pos": 418, "uniprot_canonical_ac": "O75312-1", "length": 459, "uniprot_id": "ZPR1_HUMAN", "protein_name": "Zinc finger protein ZPR1", "refseq_ac": "NP_001304015", "refseq_name": "zinc finger protein ZPR1 isoform 2", "gene_name": "ZPR1", "gene_names_uniprotkb": "ZPR1; ZNF259", "gene_names_refseq": "GKAF; ZNF259; ZPR1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75312", "url": "https://www.uniprot.org/uniprotkb/O75312" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs376498246", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376498246", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376498246", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376498246#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376498246", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376498246", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "NMKAHFIMDDPAGNSYLQNV", "down_seq": "APEDDPEMKVERYKRTFDQN", "snv": [ { "evidence": [ { "id": "rs376498246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376498246" }, { "id": "rs376498246", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376498246#frequency_tab" }, { "id": "rs376498246", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376498246" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVY->NVC).", "chr_id": "11", "chr_pos": "116779052", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y418", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "316", "end_pos": "316" } ] }, { "type": "snv", "site_list": [ { "start_pos": "260", "end_pos": "260" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "55", "end_pos": "55" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "O75312-1.55.55", "start_pos": 55, "end_pos": 55, "uniprot_canonical_ac": "O75312-1", "length": 459, "uniprot_id": "ZPR1_HUMAN", "protein_name": "Zinc finger protein ZPR1", "refseq_ac": "NP_001304015", "refseq_name": "zinc finger protein ZPR1 isoform 2", "gene_name": "ZPR1", "gene_names_uniprotkb": "ZPR1; ZNF259", "gene_names_refseq": "GKAF; ZNF259; ZPR1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75312", "url": "https://www.uniprot.org/uniprotkb/O75312" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1940914269", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1940914269", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1940914269", "url": "https://www.ensembl.org/id/rs1940914269", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ISAEDEEQQPTEIESLCMNC", "down_seq": "CNGMTRLLLTKIPFFREIIV", "snv": [ { "evidence": [ { "id": "rs1940914269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1940914269" }, { "id": "rs1940914269", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1940914269" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCY->NCS).", "chr_id": "11", "chr_pos": "116787827", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y55", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "316", "end_pos": "316" } ] }, { "type": "snv", "site_list": [ { "start_pos": "260", "end_pos": "260" }, { "start_pos": "316", "end_pos": "316" }, { "start_pos": "337", "end_pos": "337" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "55", "end_pos": "55" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "PWESSECTDVLMGRSSLNCY", "down_seq": "RVDSEHKPCEYQEYGEKPYT", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "16", "frequency": "0.3", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: patient count (16/4799).", "chr_id": "19", "chr_pos": "11780188", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V122", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.196.196", "start_pos": 196, "end_pos": 196, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SFSSLENLQRHMAAHHGDGP", "down_seq": "ICKLCGNAFIWPSLFHMLRR", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "11780410", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R196", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GDGPHKCKICGKGFLSPSSV", "down_seq": "RHKRTHTGEKPYECKYCGKA", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "11780794", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R324", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q8N8Z8-1.335.335", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.335.335", "start_pos": 335, "end_pos": 335, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KGFLSPSSVRRHKRTHTGEK", "down_seq": "YECKYCGKAFSDCTGFRRHM", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "11780828", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P335", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8N8Z8-1.324.324", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TGEKPYKCECGKAFSDFYYF", "down_seq": "NHETTHTGEKPYKCKQCGKA", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "11781044", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R407", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.439.439", "start_pos": 439, "end_pos": 439, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCKQCGKAFICCTYLQIHE", "down_seq": "IHTGERPYKCKQCGKAFRSS", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "11781140", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R439", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q8N8Z8-1.453.453", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.453.453", "start_pos": 453, "end_pos": 453, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "YLQIHERIHTGERPYKCKQC", "down_seq": "KAFRSSNYIRVHEKTHTGEK", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "11781181", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G453", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8N8Z8-1.439.439", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.519.519", "start_pos": 519, "end_pos": 519, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GDGPHKCKICGKSFDSPSSF", "down_seq": "RHERIHTGERPYKCKLCGKG", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "11781380", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R519", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.575.575", "start_pos": 575, "end_pos": 575, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GEKPYGCQQCGKALSDLSSF", "down_seq": "RHMITHTGNGPHKCKICGKG", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "11781548", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R575", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8Z8-1.634.634", "start_pos": 634, "end_pos": 634, "uniprot_canonical_ac": "Q8N8Z8-1", "length": 693, "uniprot_id": "ZN441_HUMAN", "protein_name": "Zinc finger protein 441", "refseq_ac": "NP_689568", "refseq_name": "zinc finger protein 441", "gene_name": "ZNF441", "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8Z8", "url": "https://www.uniprot.org/uniprotkb/Q8N8Z8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8Z8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "PYECKECGKAFSHSSYLRIH", "down_seq": "RVHTGEKPYKCKECGKPFHC", "snv": [ { "evidence": [ { "id": "Q8N8Z8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "11781724", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E634", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "122", "end_pos": "122" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "439", "end_pos": "439" }, { "start_pos": "453", "end_pos": "453" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "634", "end_pos": "634" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.114.114", "start_pos": 114, "end_pos": 114, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ELIDPSFQWYGPKGKVVSVE", "down_seq": "RTAQITSTGSLVFQNFEESM", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "Q9BS86", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BS86#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9BS86-1.115.115", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9BS86-1.116.116", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.187.187", "start_pos": 187, "end_pos": 187, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PHYYYQFTARYHAAPCNSIY", "down_seq": "ISFEKKLLQILSKLLLDLSC", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn187", "evidence": [ { "id": "Q9BS86", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BS86#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIS->YIS).", "chr_id": "7", "chr_pos": "50031239", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N187", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9BS86-1.189.189", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs145963071", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145963071", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs145963071", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145963071", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs145963071", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145963071#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs145963071", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145963071", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "CVICSPGSYNPRDGIHCLQC", "down_seq": "SSLVYGAKTCL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn340", "evidence": [ { "id": "Q9BS86", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BS86#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs145963071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145963071" }, { "id": "rs145963071", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145963071" }, { "id": "rs145963071", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145963071#frequency_tab" }, { "id": "rs145963071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145963071" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->ISS).", "chr_id": "7", "chr_pos": "49937565", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs145963071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145963071" }, { "id": "rs145963071", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145963071" }, { "id": "rs145963071", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145963071#frequency_tab" }, { "id": "rs145963071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145963071" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "7", "chr_pos": "49937565", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N340", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9BS86-1.342.342", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9BS86", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BS86" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BS86", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BS86", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9BS86", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BS86" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q9BS86-1.17.17", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BS86-1.115.115", "start_pos": 115, "end_pos": 115, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201273041", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201273041", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201273041", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201273041", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201273041", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201273041", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201273041", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201273041#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201273041", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201273041", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LIDPSFQWYGPKGKVVSVEN", "down_seq": "TAQITSTGSLVFQNFEESMS", "snv": [ { "evidence": [ { "id": "rs201273041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201273041" }, { "id": "rs201273041", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201273041" }, { "id": "rs201273041", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201273041" }, { "id": "rs201273041", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201273041#frequency_tab" }, { "id": "rs201273041", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201273041" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRT->NPT).", "chr_id": "7", "chr_pos": "50058132", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R115", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9BS86-1.114.114", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9BS86-1.116.116", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.116.116", "start_pos": 116, "end_pos": 116, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IDPSFQWYGPKGKVVSVENR", "down_seq": "AQITSTGSLVFQNFEESMSG", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NRT->NRI).", "chr_id": "7", "chr_pos": "50058129", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T116", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9BS86-1.114.114", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9BS86-1.115.115", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.143.143", "start_pos": 143, "end_pos": 143, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GSLVFQNFEESMSGIYTCFL", "down_seq": "YKPTVEEIVKRLQLKYAIYA", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "7", "chr_pos": "50058049", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E143", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q9BS86-1.154.154", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MSGIYTCFLEYKPTVEEIVK", "down_seq": "LQLKYAIYAYREPHYYYQFT", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "50058016", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R154", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9BS86-1.143.143", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9BS86-1.165.165", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KPTVEEIVKRLQLKYAIYAY", "down_seq": "EPHYYYQFTARYHAAPCNSI", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "50031304", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R165", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9BS86-1.154.154", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.17.17", "start_pos": 17, "end_pos": 17, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MEAFALGPARRGRRRT", "down_seq": "AAGSLLSRAAILLFISAFLV", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "50093145", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R17", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9BS86-1.0.0", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.189.189", "start_pos": 189, "end_pos": 189, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YYYQFTARYHAAPCNSIYNI", "down_seq": "FEKKLLQILSKLLLDLSCEI", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIS->NIF).", "chr_id": "7", "chr_pos": "50031232", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S189", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NIS->NIY).", "chr_id": "7", "chr_pos": "50031232", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S189", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9BS86-1.187.187", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.246.246", "start_pos": 246, "end_pos": 246, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LQNELFFAFSVSSLDTEKGP", "down_seq": "RCTDHNCEPYKRLFKAKNLI", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KRC->NRC).", "chr_id": "7", "chr_pos": "50018285", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K246", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.280.280", "start_pos": 280, "end_pos": 280, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FKAKNLIERFFNQQVEILGR", "down_seq": "AEQLPQIYYIEGTLQMVWIN", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "49983465", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R280", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AEQLPQIYYIEGTLQMVWIN", "down_seq": "CFPGYGMNVQQHPKCPECCV", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "49983402", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R301", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ICSPGSYNPRDGIHCLQCNS", "down_seq": "LVYGAKTCL", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSN).", "chr_id": "7", "chr_pos": "49937559", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S342", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9BS86-1.340.340", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ILLFISAFLVRVPSSVGHLV", "down_seq": "LPRAFRLTKDSVKIVGSTSF", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "50089695", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R48", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9BS86-1.54.54", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AFLVRVPSSVGHLVRLPRAF", "down_seq": "LTKDSVKIVGSTSFPVKAYV", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "50089677", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R54", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9BS86-1.48.48", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SFPVKAYVMLHQKSPHVLCV", "down_seq": "QQLRNAELIDPSFQWYGPKG", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "50081848", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T87", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9BS86-1.91.91", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9BS86-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q9BS86-1", "length": 351, "uniprot_id": "ZPBP1_HUMAN", "protein_name": "Zona pellucida-binding protein 1", "refseq_ac": "NP_001153350", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "gene_name": "ZPBP", "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BS86", "url": "https://www.uniprot.org/uniprotkb/Q9BS86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BS86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KAYVMLHQKSPHVLCVTQQL", "down_seq": "NAELIDPSFQWYGPKGKVVS", "snv": [ { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "50081837", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R91", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q9BS86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BS86" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "50081836", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R91", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "340", "end_pos": "340" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "143", "end_pos": "143" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "301", "end_pos": "301" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "91", "end_pos": "91" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9BS86-1.87.87", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UY13-1.38.38", "start_pos": 38, "end_pos": 38, "uniprot_canonical_ac": "Q6UY13-1", "length": 95, "uniprot_id": "YB003_HUMAN", "protein_name": "Putative uncharacterized protein UNQ5830/PRO19650/PRO19816", "refseq_ac": "", "refseq_name": "", "gene_name": "PRO19816", "gene_names_uniprotkb": "PRO19816", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UY13", "url": "https://www.uniprot.org/uniprotkb/Q6UY13" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UY13", "url": "https://www.uniprot.org/uniprotkb/Q6UY13", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ISHEAHKTSLSSWKHDQDWA", "down_seq": "VSNMTFSNGKLRVKGIYYRN", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "Q6UY13", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6UY13#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "38", "end_pos": "38" }, { "start_pos": "41", "end_pos": "41" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q6UY13-1.41.41", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6UY13-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "Q6UY13-1", "length": 95, "uniprot_id": "YB003_HUMAN", "protein_name": "Putative uncharacterized protein UNQ5830/PRO19650/PRO19816", "refseq_ac": "", "refseq_name": "", "gene_name": "PRO19816", "gene_names_uniprotkb": "PRO19816", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UY13", "url": "https://www.uniprot.org/uniprotkb/Q6UY13" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6UY13", "url": "https://www.uniprot.org/uniprotkb/Q6UY13", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EAHKTSLSSWKHDQDWANVS", "down_seq": "MTFSNGKLRVKGIYYRNADI", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "evidence": [ { "id": "Q6UY13", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6UY13#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "38", "end_pos": "38" }, { "start_pos": "41", "end_pos": "41" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q6UY13-1.38.38", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZR54-1.50.50", "start_pos": 50, "end_pos": 50, "uniprot_canonical_ac": "Q6ZR54-1", "length": 194, "uniprot_id": "YN009_HUMAN", "protein_name": "Putative uncharacterized protein FLJ46641", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZR54", "url": "https://www.uniprot.org/uniprotkb/Q6ZR54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RRGGPLGTLLANAGPSTVPV", "down_seq": "PTAGSCQPSPLSPGGSDPPP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr50", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "50", "end_pos": "50" }, { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6ZR54-1.52.52", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZR54-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "Q6ZR54-1", "length": 194, "uniprot_id": "YN009_HUMAN", "protein_name": "Putative uncharacterized protein FLJ46641", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZR54", "url": "https://www.uniprot.org/uniprotkb/Q6ZR54" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GGPLGTLLANAGPSTVPVTP", "down_seq": "AGSCQPSPLSPGGSDPPPPP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr52", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "50", "end_pos": "50" }, { "start_pos": "52", "end_pos": "52" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6ZR54-1.50.50", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZRP5-1.69.69", "start_pos": 69, "end_pos": 69, "uniprot_canonical_ac": "Q6ZRP5-1", "length": 223, "uniprot_id": "YD019_HUMAN", "protein_name": "Putative uncharacterized protein FLJ46204", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZRP5", "url": "https://www.uniprot.org/uniprotkb/Q6ZRP5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ACRDHTTILSGNRSFSAVAA", "down_seq": "PAKHKHMHTRTHTHMHTHTG", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr69", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "69", "end_pos": "69" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZS46-1.150.150", "start_pos": 150, "end_pos": 150, "uniprot_canonical_ac": "Q6ZS46-1", "length": 218, "uniprot_id": "YF009_HUMAN", "protein_name": "Putative uncharacterized protein FLJ45840", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZS46", "url": "https://www.uniprot.org/uniprotkb/Q6ZS46" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PGWMEVESPPHPPPQPQVCP", "down_seq": "PSQGAPGHGRAGLPEGKGPG", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr150", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZS52-1.142.142", "start_pos": 142, "end_pos": 142, "uniprot_canonical_ac": "Q6ZS52-1", "length": 159, "uniprot_id": "YF013_HUMAN", "protein_name": "Putative uncharacterized protein FLJ45825", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZS52", "url": "https://www.uniprot.org/uniprotkb/Q6ZS52" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HGAVRSWGPWKVVAEQPVGG", "down_seq": "DPPAHGGRGRPSPNENT", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr142", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "142", "end_pos": "142" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZSR3-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q6ZSR3-1", "length": 168, "uniprot_id": "YO027_HUMAN", "protein_name": "Putative uncharacterized protein FLJ45275, mitochondrial", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR3", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR3" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR3", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q6ZSR3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR3" } ] } ], "all_sites": [], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.150.150", "start_pos": 150, "end_pos": 150, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FRSSRVPNDDMDIFSKAPFV", "down_seq": "KSSMAPSQPEESDVFLRAPF", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser150", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser150", "evidence": [ { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "GLY_000142", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000142" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.221.221", "start_pos": 221, "end_pos": 221, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DVPLPAGRERAVYTSVQAQY", "down_seq": "TAGFVQQSNLLSHSVQAADH", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser221", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser221", "evidence": [ { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "GLY_000142", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000142" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q6ZSR9-1.229.229", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q6ZSR9-1.233.233", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6ZSR9-1.235.235", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.229.229", "start_pos": 229, "end_pos": 229, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ERAVYTSVQAQYSTAGFVQQ", "down_seq": "NLLSHSVQAADHLDSISPRG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser229", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6ZSR9-1.221.221", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6ZSR9-1.233.233", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6ZSR9-1.235.235", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.233.233", "start_pos": 233, "end_pos": 233, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YTSVQAQYSTAGFVQQSNLL", "down_seq": "HSVQAADHLDSISPRGSCLE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser233", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q6ZSR9-1.221.221", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6ZSR9-1.229.229", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6ZSR9-1.235.235", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.235.235", "start_pos": 235, "end_pos": 235, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVQAQYSTAGFVQQSNLLSH", "down_seq": "VQAADHLDSISPRGSCLESG", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser235", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q6ZSR9-1.221.221", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6ZSR9-1.229.229", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6ZSR9-1.233.233", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.313.313", "start_pos": 313, "end_pos": 313, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YSPEDEPSPEAQPIAAYKIV", "down_seq": "QTNKQSIAGSVSITSLSSRT", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser313", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6ZSR9-1.293.293", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q6ZSR9-1.294.294", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6ZSR9-1.315.315", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6ZSR9-1.319.319", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PEDEPSPEAQPIAAYKIVSQ", "down_seq": "NKQSIAGSVSITSLSSRTTE", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr315", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6ZSR9-1.313.313", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6ZSR9-1.319.319", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] }, { "title": "Spatial and temporal proteomics reveals the distinct distributions and dynamics of O-GlcNAcylated proteins.", "journal": "Cell reports", "date": "2022-06-14", "authors": "Xu Senhan, Tong Ming, Suttapitugsakul Suttipong, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "35705054", "url": "https://glygen.org/publication/PubMed/35705054", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PSPEAQPIAAYKIVSQTNKQ", "down_seq": "IAGSVSITSLSSRTTELPAA", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser319", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q6ZSR9-1.313.313", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6ZSR9-1.315.315", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.42.42", "start_pos": 42, "end_pos": 42, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NNLESDYLARDGPSSNSSFH", "down_seq": "SEEEGTDLEGDMLDCSGSRP", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser42", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.93.93", "start_pos": 93, "end_pos": 93, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" }, { "database": "Data Submission", "id": "GLY_000142", "url": "http://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells.", "journal": "Nature communications", "date": "2025-04-30", "authors": "Xu Senhan, Yin Kejun, Xu Xing, Fu Longping, Wu Ronghu", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" } ], "reference": [ { "type": "PubMed", "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40307207", "url": "https://glygen.org/publication/PubMed/40307207", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZSR9", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SCRPPPGKLGGAVPFAPPEV", "down_seq": "PEQAKTVQGGRKNQFQAFTQ", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser93", "evidence": [ { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZSR9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "Q6ZSR9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZSR9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6ZSR9-1.175.175", "start_pos": 175, "end_pos": 175, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "APSQPEESDVFLRAPFTKKK", "down_seq": "MEELTVIQCTSQELPAQTGL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "site_lbl": "Ser175" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZSR9-1.293.293", "start_pos": 293, "end_pos": 293, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SGPMAGKPFRPQSLSKYSRH", "down_seq": "SPEDEPSPEAQPIAAYKIVS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "site_lbl": "Tyr293" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q6ZSR9-1.294.294", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6ZSR9-1.313.313", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZSR9-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q6ZSR9-1", "length": 355, "uniprot_id": "YJ005_HUMAN", "protein_name": "Uncharacterized protein FLJ45252", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GPMAGKPFRPQSLSKYSRHY", "down_seq": "PEDEPSPEAQPIAAYKIVSQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6ZSR9", "url": "https://www.uniprot.org/uniprotkb/Q6ZSR9" } ], "site_lbl": "Ser294" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "150", "end_pos": "150" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "93", "end_pos": "93" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "175", "end_pos": "175" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "294", "end_pos": "294" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q6ZSR9-1.293.293", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6ZSR9-1.313.313", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1112.1112", "start_pos": 1112, "end_pos": 1112, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FQAQLEVKLVTGGSPVVFTG", "down_seq": "LTRQVGSKLAFSASLSHLLS", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1112", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1136.1136", "start_pos": 1136, "end_pos": 1136, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QVGSKLAFSASLSHLLSDQA", "down_seq": "VTALLERKEENGRRVAALGA", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1136", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1276.1276", "start_pos": 1276, "end_pos": 1276, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GKHWDKNSNKRHLRVSQTFK", "down_seq": "DSGPALSNHFMEFVLQVPER", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1276", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1472.1472", "start_pos": 1472, "end_pos": 1472, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "ENSRDRKILNCWLKGPQQEL", "down_seq": "LTAAYRHLEWPRKTQVSLTA", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1472", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1694.1694", "start_pos": 1694, "end_pos": 1694, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RQSPQGTFNFGMDARAAVNH", "down_seq": "VTSQASVQLNGSDSDFAFFF", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1694", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q6ZTK2-1.1704.1704", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1704.1704", "start_pos": 1704, "end_pos": 1704, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GMDARAAVNHNVTSQASVQL", "down_seq": "GSDSDFAFFFQLRHPHGPTF", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1704", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6ZTK2-1.1694.1694", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1743.1743", "start_pos": 1743, "end_pos": 1743, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TFPPNFQVQAAAGRYRVRSL", "down_seq": "GSLSVQMSGRELVLLEVDAS", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1743", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1891.1891", "start_pos": 1891, "end_pos": 1891, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VTADSAVLGFLLRDQHEKAG", "down_seq": "GTSVRSVTCVLAQNSSQALP", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1891", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q6ZTK2-1.1905.1905", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1905.1905", "start_pos": 1905, "end_pos": 1905, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QHEKAGNGTSVRSVTCVLAQ", "down_seq": "SSQALPGELQLKGRLQAQTR", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1905", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q6ZTK2-1.1891.1891", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1962.1962", "start_pos": 1962, "end_pos": 1962, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LGGACSWGPRHGQLAGGPTH", "down_seq": "ISTLSDAGLPSEAGMLLSLT", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1962", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.1987.1987", "start_pos": 1987, "end_pos": 1987, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SDAGLPSEAGMLLSLTHVAS", "down_seq": "CSARLALWNAGAQLDGAIGL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1987", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.2104.2104", "start_pos": 2104, "end_pos": 2104, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LGLHHGLSGLQGTLPSQLEV", "down_seq": "CSGDASPTQLLGWCRGDIAG", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2104", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.2135.2135", "start_pos": 2135, "end_pos": 2135, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LGWCRGDIAGQPLEVSVDIH", "down_seq": "GSSGFEHSGRILMGPTFLNY", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2135", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q6ZTK2-1.2154.2154", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.2154.2154", "start_pos": 2154, "end_pos": 2154, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HNGSSGFEHSGRILMGPTFL", "down_seq": "YSVSCYYHDGHLELSGRSWH", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2154", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6ZTK2-1.2135.2135", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.2414.2414", "start_pos": 2414, "end_pos": 2414, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DGQEVALTGSLSGPFPKPTR", "down_seq": "LSLQVELTHPLPLPLPRHCS", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2414", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.2572.2572", "start_pos": 2572, "end_pos": 2572, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NSLQACGAFTQTPAVFVEQL", "down_seq": "VSWGQHRMRQNLTYERHWPS", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2572", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q6ZTK2-1.2583.2583", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.2583.2583", "start_pos": 2583, "end_pos": 2583, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TPAVFVEQLNVSWGQHRMRQ", "down_seq": "LTYERHWPSQPDKIIMEATL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2583", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6ZTK2-1.2572.2572", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.2682.2682", "start_pos": 2682, "end_pos": 2682, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "CHLGLAPDPDHGLHLSLTLQ", "down_seq": "HSRPRSADFSGALELRGSKA", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2682", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.2795.2795", "start_pos": 2795, "end_pos": 2795, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LFRDGRQPSQPLGRLTLQAA", "down_seq": "QSLLLAARGCQGGLLGHVES", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2795", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.3006.3006", "start_pos": 3006, "end_pos": 3006, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SRALKRLCKPLLDLYSLSAR", "down_seq": "RSVVVMLPLLPAGDEPLDVA", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3006", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.3141.3141", "start_pos": 3141, "end_pos": 3141, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VELNHKTLILYPSLQAYRLY", "down_seq": "SSLPGDSCPDLKLHPATTRK", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3141", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.3276.3276", "start_pos": 3276, "end_pos": 3276, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "WAFFEGPHSSLRDCFRVVDP", "down_seq": "PFLSLCVQVPCGTQELQPAC", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3276", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AVEADEVEAWLSSLAFLPQP", "down_seq": "DAMVHMLLPLLQTPRASPGA", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr407", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "CGQLPGVGSLVRILGDALGE", "down_seq": "CTIQEPSDDDKLQLVLKAVG", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn466", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.60.60", "start_pos": 60, "end_pos": 60, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TGSAGPHLPVGTRYTYHFST", "down_seq": "TSTSLQDVLVEGSGLGLQGL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.657.657", "start_pos": 657, "end_pos": 657, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NLEGTLLFSPASFLPRSATV", "down_seq": "LTIHTMGRAFNLLELGLRLE", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn657", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.809.809", "start_pos": 809, "end_pos": 809, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GQEVQMNRRLSLAAQELVFP", "down_seq": "VSGLPARLTLNASAAISIRV", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr809", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q6ZTK2-1.820.820", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZTK2-1.820.820", "start_pos": 820, "end_pos": 820, "uniprot_canonical_ac": "Q6ZTK2-1", "length": 3320, "uniprot_id": "APLTP_HUMAN", "protein_name": "Protein APOLTP", "refseq_ac": "NP_001357633", "refseq_name": "putative uncharacterized protein LOC400499 isoform 1 precursor", "gene_name": "APOLTP", "gene_names_uniprotkb": "APOLTP", "gene_names_refseq": "APOLTP", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZTK2", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LAAQELVFPTVSGLPARLTL", "down_seq": "ASAAISIRVRGTTDFQQRSD", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn820", "evidence": [ { "id": "Q6ZTK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6ZTK2#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1112", "end_pos": "1112" }, { "start_pos": "1136", "end_pos": "1136" }, { "start_pos": "1276", "end_pos": "1276" }, { "start_pos": "1472", "end_pos": "1472" }, { "start_pos": "1694", "end_pos": "1694" }, { "start_pos": "1704", "end_pos": "1704" }, { "start_pos": "1743", "end_pos": "1743" }, { "start_pos": "1891", "end_pos": "1891" }, { "start_pos": "1905", "end_pos": "1905" }, { "start_pos": "1962", "end_pos": "1962" }, { "start_pos": "1987", "end_pos": "1987" }, { "start_pos": "2104", "end_pos": "2104" }, { "start_pos": "2135", "end_pos": "2135" }, { "start_pos": "2154", "end_pos": "2154" }, { "start_pos": "2414", "end_pos": "2414" }, { "start_pos": "2572", "end_pos": "2572" }, { "start_pos": "2583", "end_pos": "2583" }, { "start_pos": "2682", "end_pos": "2682" }, { "start_pos": "2795", "end_pos": "2795" }, { "start_pos": "3006", "end_pos": "3006" }, { "start_pos": "3141", "end_pos": "3141" }, { "start_pos": "3276", "end_pos": "3276" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "809", "end_pos": "809" }, { "start_pos": "820", "end_pos": "820" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6ZTK2-1.809.809", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6ZUG5-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q6ZUG5-1", "length": 572, "uniprot_id": "YC006_HUMAN", "protein_name": "Uncharacterized protein FLJ43738", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZUG5", "url": "https://www.uniprot.org/uniprotkb/Q6ZUG5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZUG5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZUG5" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "crossref": [ { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6ZUG5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZUG5", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "Q6ZUG5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZUG5" } ] } ], "all_sites": [], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q86TA4-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q86TA4-1", "length": 180, "uniprot_id": "YB049_HUMAN", "protein_name": "Putative uncharacterized protein FLJ44553", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TA4", "url": "https://www.uniprot.org/uniprotkb/Q86TA4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CLLPVCMAHLCPASPCYFGA", "down_seq": "PGSGKFCRLITYSHSSPQLA", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr96", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N377-1.24.24", "start_pos": 24, "end_pos": 24, "uniprot_canonical_ac": "Q8N377-1", "length": 158, "uniprot_id": "YJ004_HUMAN", "protein_name": "Putative uncharacterized protein LOC387726", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N377", "url": "https://www.uniprot.org/uniprotkb/Q8N377" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RQISPTTCTTPASSSSAAPP", "down_seq": "PASSSSAAPPTPASSSSAAP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr24", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "24", "end_pos": "24" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q8N377-1.35.35", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N377-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q8N377-1", "length": 158, "uniprot_id": "YJ004_HUMAN", "protein_name": "Putative uncharacterized protein LOC387726", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N377", "url": "https://www.uniprot.org/uniprotkb/Q8N377" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ASSSSAAPPTPASSSSAAPP", "down_seq": "PASSSSAAPPTPANCSTAAP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr35", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "24", "end_pos": "24" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8N377-1.24.24", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8N377-1.46.46", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N377-1.46.46", "start_pos": 46, "end_pos": 46, "uniprot_canonical_ac": "Q8N377-1", "length": 158, "uniprot_id": "YJ004_HUMAN", "protein_name": "Putative uncharacterized protein LOC387726", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N377", "url": "https://www.uniprot.org/uniprotkb/Q8N377" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ASSSSAAPPTPASSSSAAPP", "down_seq": "PANCSTAAPPTPANCSTAAP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr46", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "24", "end_pos": "24" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8N377-1.35.35", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8N377-1.57.57", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N377-1.57.57", "start_pos": 57, "end_pos": 57, "uniprot_canonical_ac": "Q8N377-1", "length": 158, "uniprot_id": "YJ004_HUMAN", "protein_name": "Putative uncharacterized protein LOC387726", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N377", "url": "https://www.uniprot.org/uniprotkb/Q8N377" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ASSSSAAPPTPANCSTAAPP", "down_seq": "PANCSTAAPPTPASSGSAAP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr57", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "24", "end_pos": "24" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8N377-1.46.46", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8N377-1.68.68", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N377-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "Q8N377-1", "length": 158, "uniprot_id": "YJ004_HUMAN", "protein_name": "Putative uncharacterized protein LOC387726", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N377", "url": "https://www.uniprot.org/uniprotkb/Q8N377" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ANCSTAAPPTPANCSTAAPP", "down_seq": "PASSGSAAPPTPAPDHWWME", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr68", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "24", "end_pos": "24" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8N377-1.57.57", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8N377-1.79.79", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N377-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "Q8N377-1", "length": 158, "uniprot_id": "YJ004_HUMAN", "protein_name": "Putative uncharacterized protein LOC387726", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N377", "url": "https://www.uniprot.org/uniprotkb/Q8N377" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ANCSTAAPPTPASSGSAAPP", "down_seq": "PAPDHWWMEAPHHWLPGLLA", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr79", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "24", "end_pos": "24" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "57", "end_pos": "57" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8N377-1.68.68", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N7P7-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "Q8N7P7-1", "length": 452, "uniprot_id": "YH007_HUMAN", "protein_name": "Uncharacterized protein FLJ40521", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N7P7", "url": "https://www.uniprot.org/uniprotkb/Q8N7P7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DDGCLLKQGPRGRRLSPQTG", "down_seq": "PGTTAVSSNRNPEDDGCLLK", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr134", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "417", "end_pos": "417" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N7P7-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q8N7P7-1", "length": 452, "uniprot_id": "YH007_HUMAN", "protein_name": "Uncharacterized protein FLJ40521", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N7P7", "url": "https://www.uniprot.org/uniprotkb/Q8N7P7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DDGCLLKQEPRGRRLSPQTG", "down_seq": "PGTTAVSSNRDHEDDGCLLK", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr168", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "417", "end_pos": "417" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N7P7-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q8N7P7-1", "length": 452, "uniprot_id": "YH007_HUMAN", "protein_name": "Uncharacterized protein FLJ40521", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N7P7", "url": "https://www.uniprot.org/uniprotkb/Q8N7P7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DDGCLLKQESRGRRLSPQTG", "down_seq": "PGTTAVSSNRNPEDDGCLLK", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr202", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "417", "end_pos": "417" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N7P7-1.236.236", "start_pos": 236, "end_pos": 236, "uniprot_canonical_ac": "Q8N7P7-1", "length": 452, "uniprot_id": "YH007_HUMAN", "protein_name": "Uncharacterized protein FLJ40521", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N7P7", "url": "https://www.uniprot.org/uniprotkb/Q8N7P7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DDGCLLKQESRGRRLSPQTG", "down_seq": "PGTTAVSSNRDPEDDGCLLK", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr236", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "417", "end_pos": "417" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N7P7-1.417.417", "start_pos": 417, "end_pos": 417, "uniprot_canonical_ac": "Q8N7P7-1", "length": 452, "uniprot_id": "YH007_HUMAN", "protein_name": "Uncharacterized protein FLJ40521", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N7P7", "url": "https://www.uniprot.org/uniprotkb/Q8N7P7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DDGCLLKQGPRGRRLSPQTG", "down_seq": "PGTTAVSSNRDPEDDGCLLK", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr417", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "134", "end_pos": "134" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "417", "end_pos": "417" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N8F6-1.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "Q8N8F6-1", "length": 256, "uniprot_id": "YIPF7_HUMAN", "protein_name": "Protein YIPF7", "refseq_ac": "NP_872398", "refseq_name": "protein YIPF7 isoform 1", "gene_name": "YIPF7", "gene_names_uniprotkb": "YIPF7; FINGER9; YIP1B", "gene_names_refseq": "FinGER9; YIPF7; YIPFalpha1b; Yip1b", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N8F6", "url": "https://www.uniprot.org/uniprotkb/Q8N8F6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N8F6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8F6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GQFFQPASNSDYYSQSPYID", "down_seq": "FDEEPPLLEELGIHFDHIWQ", "snv": [ { "evidence": [ { "id": "Q8N8F6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8F6" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "44636023", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S84", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "84", "end_pos": "84" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N9L7-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8N9L7-1", "length": 120, "uniprot_id": "YV006_HUMAN", "protein_name": "Putative uncharacterized protein FLJ36925", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N9L7", "url": "https://www.uniprot.org/uniprotkb/Q8N9L7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N9L7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N9L7" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N9L7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N9L7", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q8N9L7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N9L7" } ] } ], "all_sites": [], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N9W7-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "Q8N9W7-1", "length": 124, "uniprot_id": "YO010_HUMAN", "protein_name": "Putative transmembrane protein FLJ36131", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N9W7", "url": "https://www.uniprot.org/uniprotkb/Q8N9W7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N9W7", "url": "https://www.uniprot.org/uniprotkb/Q8N9W7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TFIVNFYLPPESIDFEFMAH", "down_seq": "WSKGRSPSSTLGLSWFKAGF", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "evidence": [ { "id": "Q8N9W7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8N9W7#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8N9X3-1.130.130", "start_pos": 130, "end_pos": 130, "uniprot_canonical_ac": "Q8N9X3-1", "length": 169, "uniprot_id": "YA026_HUMAN", "protein_name": "Putative uncharacterized protein encoded by LINC01356", "refseq_ac": "", "refseq_name": "", "gene_name": "LINC01356", "gene_names_uniprotkb": "LINC01356", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N9X3", "url": "https://www.uniprot.org/uniprotkb/Q8N9X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DVCVPDACRWRRRSRETRGE", "down_seq": "QSVRAAVRSPDQAFHALVSG", "glycosylation": [ { "glytoucan_ac": "G03238UC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GENQSVRAAVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N9X3-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "Q8N9X3-1", "length": 169, "uniprot_id": "YA026_HUMAN", "protein_name": "Putative uncharacterized protein encoded by LINC01356", "refseq_ac": "", "refseq_name": "", "gene_name": "LINC01356", "gene_names_uniprotkb": "LINC01356", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N9X3", "url": "https://www.uniprot.org/uniprotkb/Q8N9X3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CCPVPAPQSLPSTTRPHLPP", "down_seq": "PQGQASRWLFLFLFQKLRGE", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr88", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "130", "end_pos": "130" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NAQ8-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8NAQ8-1", "length": 132, "uniprot_id": "YP023_HUMAN", "protein_name": "Putative uncharacterized protein FLJ34945", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NAQ8", "url": "https://www.uniprot.org/uniprotkb/Q8NAQ8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.", "journal": "Frontiers in immunology", "date": "2024", "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NAQ8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NAQ8" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NAQ8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NAQ8", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "Q8NAQ8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NAQ8" } ] } ], "all_sites": [], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NBF4-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q8NBF4-1", "length": 154, "uniprot_id": "YG006_HUMAN", "protein_name": "Putative uncharacterized protein FLJ33307", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBF4", "url": "https://www.uniprot.org/uniprotkb/Q8NBF4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VRVVASVQSGHSWWRMWDGP", "down_seq": "GAAEAGSCAEMLRTSAPGTS", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr47", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "47", "end_pos": "47" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q93098-1.103.103", "start_pos": 103, "end_pos": 103, "uniprot_canonical_ac": "Q93098-1", "length": 351, "uniprot_id": "WNT8B_HUMAN", "protein_name": "Protein Wnt-8b", "refseq_ac": "NP_003384", "refseq_name": "protein Wnt-8b precursor", "gene_name": "WNT8B", "gene_names_uniprotkb": "WNT8B", "gene_names_refseq": "WNT8B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RETAFVHAISSAGVMYTLTR", "down_seq": "CSLGDFDNCGCDDSRNGQLG", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "Q93098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q93098#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "259", "end_pos": "259" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q93098-1.259.259", "start_pos": 259, "end_pos": 259, "uniprot_canonical_ac": "Q93098-1", "length": 351, "uniprot_id": "WNT8B_HUMAN", "protein_name": "Protein Wnt-8b", "refseq_ac": "NP_003384", "refseq_name": "protein Wnt-8b precursor", "gene_name": "WNT8B", "gene_names_uniprotkb": "WNT8B", "gene_names_refseq": "WNT8B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "rs1378617749", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378617749", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1378617749", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378617749", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RSISTRELVHLEDSPDYCLE", "down_seq": "KTLGLLGTEGRECLRRGRAL", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn259", "evidence": [ { "id": "Q93098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q93098#ptm_processing" } ] } ], "snv": [ { "evidence": [ { "id": "rs1378617749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378617749" }, { "id": "rs1378617749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378617749" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->KKT).", "chr_id": "10", "chr_pos": "100482537", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N259", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "259", "end_pos": "259" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q93098-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q93098-1.261.261", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q93098-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q93098-1", "length": 351, "uniprot_id": "WNT8B_HUMAN", "protein_name": "Protein Wnt-8b", "refseq_ac": "NP_003384", "refseq_name": "protein Wnt-8b precursor", "gene_name": "WNT8B", "gene_names_uniprotkb": "WNT8B", "gene_names_refseq": "WNT8B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy.", "journal": "Nature communications", "date": "2025-02-02", "authors": "Zhang Na, Meng Yang, Mao Song, Ni Huiling, Huang Canhua, Shen Licong, Fu Kun, Lv Lu, Yu Chunhong, Meekrathok Piyanat, Kuang Chunmei, Chen Fang, Zhang Yu, Yuan Kai", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q93098", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q93098" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q93098", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q93098", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q93098", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q93098" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "259", "end_pos": "259" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q93098-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "Q93098-1", "length": 351, "uniprot_id": "WNT8B_HUMAN", "protein_name": "Protein Wnt-8b", "refseq_ac": "NP_003384", "refseq_name": "protein Wnt-8b precursor", "gene_name": "WNT8B", "gene_names_uniprotkb": "WNT8B", "gene_names_refseq": "WNT8B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1209225524", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209225524", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1209225524", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1209225524#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VDALETGQDARAAMNLHNNE", "down_seq": "GRKAVKGTMKRTCKCHGVSG", "snv": [ { "evidence": [ { "id": "rs1209225524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209225524" }, { "id": "rs1209225524", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1209225524#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEA->NES).", "chr_id": "10", "chr_pos": "100482043", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A167", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "259", "end_pos": "259" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q93098-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q93098-1", "length": 351, "uniprot_id": "WNT8B_HUMAN", "protein_name": "Protein Wnt-8b", "refseq_ac": "NP_003384", "refseq_name": "protein Wnt-8b precursor", "gene_name": "WNT8B", "gene_names_uniprotkb": "WNT8B", "gene_names_refseq": "WNT8B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs534034075", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534034075", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs534034075", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534034075", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs534034075", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534034075", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs534034075", "url": "https://www.ncbi.nlm.nih.gov/snp/rs534034075#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs534034075", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534034075", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IADTFRSISTRELVHLEDSP", "down_seq": "YCLENKTLGLLGTEGRECLR", "snv": [ { "evidence": [ { "id": "rs534034075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534034075" }, { "id": "rs534034075", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534034075" }, { "id": "rs534034075", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534034075" }, { "id": "rs534034075", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs534034075#frequency_tab" }, { "id": "rs534034075", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534034075" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DYC->NYC).", "chr_id": "10", "chr_pos": "100482520", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D254", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "259", "end_pos": "259" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q93098-1.259.259", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q93098-1.261.261", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q93098-1.261.261", "start_pos": 261, "end_pos": 261, "uniprot_canonical_ac": "Q93098-1", "length": 351, "uniprot_id": "WNT8B_HUMAN", "protein_name": "Protein Wnt-8b", "refseq_ac": "NP_003384", "refseq_name": "protein Wnt-8b precursor", "gene_name": "WNT8B", "gene_names_uniprotkb": "WNT8B", "gene_names_refseq": "WNT8B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1851131733", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1851131733", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1851131733", "url": "https://www.ensembl.org/id/rs1851131733", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ISTRELVHLEDSPDYCLENK", "down_seq": "LGLLGTEGRECLRRGRALGR", "snv": [ { "evidence": [ { "id": "rs1851131733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1851131733" }, { "id": "rs1851131733", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1851131733" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->NKM).", "chr_id": "10", "chr_pos": "100482542", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T261", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "259", "end_pos": "259" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q93098-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q93098-1.259.259", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q93098-1.331.331", "start_pos": 331, "end_pos": 331, "uniprot_canonical_ac": "Q93098-1", "length": 351, "uniprot_id": "WNT8B_HUMAN", "protein_name": "Protein Wnt-8b", "refseq_ac": "NP_003384", "refseq_name": "protein Wnt-8b precursor", "gene_name": "WNT8B", "gene_names_uniprotkb": "WNT8B", "gene_names_refseq": "WNT8B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1851136191", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1851136191", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1851136191", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1851136191", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CKFHWCCAVRCEQCRRRVTK", "down_seq": "FCSRAERPRGGAAHKPGRKP", "snv": [ { "evidence": [ { "id": "rs1851136191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1851136191" }, { "id": "rs1851136191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1851136191" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YFC->NFC).", "chr_id": "10", "chr_pos": "100482751", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y331", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "259", "end_pos": "259" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q93098-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "Q93098-1", "length": 351, "uniprot_id": "WNT8B_HUMAN", "protein_name": "Protein Wnt-8b", "refseq_ac": "NP_003384", "refseq_name": "protein Wnt-8b precursor", "gene_name": "WNT8B", "gene_names_uniprotkb": "WNT8B", "gene_names_refseq": "WNT8B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93098", "url": "https://www.uniprot.org/uniprotkb/Q93098" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q93098", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93098", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AWDRWNCPERALQLSSHGGL", "down_seq": "SANRETAFVHAISSAGVMYT", "snv": [ { "evidence": [ { "id": "Q93098", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93098" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "10", "chr_pos": "100480006", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R79", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "259", "end_pos": "259" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "79", "end_pos": "79" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.572.572", "start_pos": 572, "end_pos": 572, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96JL9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96JL9" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96JL9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96JL9", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HMRTHTGEKPYVCQECGRAF", "down_seq": "EPSSLRKHARTHSGKKPYAC", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser572", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q96JL9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96JL9" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q96JL9-1.554.554", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96JL9-1.136.136", "start_pos": 136, "end_pos": 136, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "IEERETPLTREDRPALQEPP", "down_seq": "SLGCTGLKAAMQIQRVVIPV", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "W", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "14705154", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "W136", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GLKAAMQIQRVVIPVPTLGH", "down_seq": "NPWVARDSAVPARDPAWLQE", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "14706747", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R162", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780391999", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780391999", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780391999", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780391999", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780391999", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780391999", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LDSTQRSLYRDVMLENYRNL", "down_seq": "SVADQLCKPNALSYLEERGE", "snv": [ { "evidence": [ { "id": "rs780391999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780391999" }, { "id": "rs780391999", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780391999" }, { "id": "rs780391999", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780391999" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "19", "chr_pos": "14716229", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A240", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q96JL9-1.252.252", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.252.252", "start_pos": 252, "end_pos": 252, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1444343042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444343042", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1444343042", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1444343042", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MLENYRNLASVADQLCKPNA", "down_seq": "SYLEERGEQWTTDRGVLSDT", "snv": [ { "evidence": [ { "id": "rs1444343042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1444343042" }, { "id": "rs1444343042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1444343042" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAL->NAS).", "chr_id": "19", "chr_pos": "14717021", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L252", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q96JL9-1.240.240", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs542712214", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542712214", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs542712214", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542712214", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs542712214", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542712214", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs542712214", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542712214#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs542712214", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542712214", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FEDVAVEFIQEWALLDSARR", "down_seq": "LCKYRMLDQCRTLASRGTPP", "snv": [ { "evidence": [ { "id": "rs542712214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542712214" }, { "id": "rs542712214", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542712214" }, { "id": "rs542712214", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542712214" }, { "id": "rs542712214", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs542712214#frequency_tab" }, { "id": "rs542712214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542712214" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLC->NLC).", "chr_id": "19", "chr_pos": "14695083", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "S26", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.322.322", "start_pos": 322, "end_pos": 322, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QPQPGEKLYKYNELEKPFNS", "down_seq": "EPLFQYQRIHAGEASCECQE", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSI->NSS).", "chr_id": "19", "chr_pos": "14718292", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I322", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "19", "chr_pos": "14718292", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I322", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.357.357", "start_pos": 357, "end_pos": 357, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SCECQEIRNSFFQSAHLIVP", "down_seq": "KIRSGDKSYACNKCEKSFRY", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "14718396", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E357", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q96JL9-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q96JL9-1.363.363", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.360.360", "start_pos": 360, "end_pos": 360, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CQEIRNSFFQSAHLIVPEKI", "down_seq": "SGDKSYACNKCEKSFRYSSD", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "14718406", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R360", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q96JL9-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q96JL9-1.363.363", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.363.363", "start_pos": 363, "end_pos": 363, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2042500515", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2042500515", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2042500515", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2042500515#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IRNSFFQSAHLIVPEKIRSG", "down_seq": "KSYACNKCEKSFRYSSDLIR", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" }, { "id": "rs2042500515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2042500515" }, { "id": "rs2042500515", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2042500515#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "19", "chr_pos": "14718414", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D363", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q96JL9-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q96JL9-1.360.360", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.404.404", "start_pos": 404, "end_pos": 404, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HEKTHTAEKCFDCQECGQAF", "down_seq": "YSSNLRRHMRTHTGEKPFEC", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "19", "chr_pos": "14718539", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K404", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.462.462", "start_pos": 462, "end_pos": 462, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764809167", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764809167", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764809167", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764809167", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764809167", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764809167#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764809167", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764809167", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RNHTGEKPYECKDCGKAFNQ", "down_seq": "SSLRSHVRTHTGEKPFECSQ", "snv": [ { "evidence": [ { "id": "rs764809167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764809167" }, { "id": "rs764809167", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764809167" }, { "id": "rs764809167", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764809167#frequency_tab" }, { "id": "rs764809167", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764809167" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "19", "chr_pos": "14718711", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P462", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q96JL9-1.481.481", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.481.481", "start_pos": 481, "end_pos": 481, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs868407588", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868407588", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs868407588", "url": "https://www.ensembl.org/id/rs868407588", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QPSSLRSHVRTHTGEKPFEC", "down_seq": "QCGKAFREHSSLKTHLRTHT", "snv": [ { "evidence": [ { "id": "rs868407588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868407588" }, { "id": "rs868407588", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868407588" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SQC->NQC).", "chr_id": "19", "chr_pos": "14718769", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S481", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q96JL9-1.462.462", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.534.534", "start_pos": 534, "end_pos": 534, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1223542597", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223542597", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1223542597", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223542597", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PFRTSTHLNVHKRIHTGEKL", "down_seq": "ECATCGQVLSRLSTLKSHMR", "snv": [ { "evidence": [ { "id": "rs1223542597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223542597" }, { "id": "rs1223542597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223542597" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YEC->NEC).", "chr_id": "19", "chr_pos": "14718927", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y534", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q96JL9-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q96JL9-1.554.554", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.537.537", "start_pos": 537, "end_pos": 537, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TSTHLNVHKRIHTGEKLYEC", "down_seq": "TCGQVLSRLSTLKSHMRTHT", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "14718937", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A537", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q96JL9-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q96JL9-1.554.554", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.554.554", "start_pos": 554, "end_pos": 554, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YECATCGQVLSRLSTLKSHM", "down_seq": "THTGEKPYVCQECGRAFSEP", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "8", "frequency": "0.5", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "14718988", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R554", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q96JL9-1.534.534", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q96JL9-1.537.537", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q96JL9-1.572.572", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.618.618", "start_pos": 618, "end_pos": 618, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1402934088", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402934088", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1402934088", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402934088#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1402934088", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402934088", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AFGQSSHLIVHVRTHSAGRP", "down_seq": "QCNQCEKAFRHSSSLTVHKR", "snv": [ { "evidence": [ { "id": "rs1402934088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402934088" }, { "id": "rs1402934088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1402934088#frequency_tab" }, { "id": "rs1402934088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402934088" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YQC->NQC).", "chr_id": "19", "chr_pos": "14719179", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y618", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q96JL9-1.630.630", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96JL9-1.630.630", "start_pos": 630, "end_pos": 630, "uniprot_canonical_ac": "Q96JL9-1", "length": 665, "uniprot_id": "ZN333_HUMAN", "protein_name": "Zinc finger protein 333", "refseq_ac": "NP_001287841", "refseq_name": "zinc finger protein 333 isoform 2", "gene_name": "ZNF333", "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96JL9", "url": "https://www.uniprot.org/uniprotkb/Q96JL9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96JL9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RTHSAGRPYQCNQCEKAFRH", "down_seq": "SSLTVHKRTHVGRETIRNGS", "snv": [ { "evidence": [ { "id": "Q96JL9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96JL9" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "19", "chr_pos": "14719216", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S630", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "572", "end_pos": "572" } ] }, { "type": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "252", "end_pos": "252" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "462", "end_pos": "462" }, { "start_pos": "481", "end_pos": "481" }, { "start_pos": "534", "end_pos": "534" }, { "start_pos": "537", "end_pos": "537" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "630", "end_pos": "630" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q96JL9-1.618.618", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99676-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q99676-1", "length": 751, "uniprot_id": "ZN184_HUMAN", "protein_name": "Zinc finger protein 184", "refseq_ac": "NP_001305820", "refseq_name": "zinc finger protein 184 isoform 1", "gene_name": "ZNF184", "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy.", "journal": "Nature communications", "date": "2025-02-02", "authors": "Zhang Na, Meng Yang, Mao Song, Ni Huiling, Huang Canhua, Shen Licong, Fu Kun, Lv Lu, Yu Chunhong, Meekrathok Piyanat, Kuang Chunmei, Chen Fang, Zhang Yu, Yuan Kai", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q99676", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99676" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q99676", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99676", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q99676", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99676" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "746", "end_pos": "746" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "199", "end_pos": "199" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q99676-1.14.14", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q99676-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "Q99676-1", "length": 751, "uniprot_id": "ZN184_HUMAN", "protein_name": "Zinc finger protein 184", "refseq_ac": "NP_001305820", "refseq_name": "zinc finger protein 184 isoform 1", "gene_name": "ZNF184", "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99676", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MEDLSSPDSTLLQ", "down_seq": "GHNLLSSASFQEAVTFKDVI", "snv": [ { "evidence": [ { "id": "Q99676", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "27467887", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G14", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "746", "end_pos": "746" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "199", "end_pos": "199" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q99676-1.0.0", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99676-1.497.497", "start_pos": 497, "end_pos": 497, "uniprot_canonical_ac": "Q99676-1", "length": 751, "uniprot_id": "ZN184_HUMAN", "protein_name": "Zinc finger protein 184", "refseq_ac": "NP_001305820", "refseq_name": "zinc finger protein 184 isoform 1", "gene_name": "ZNF184", "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99676", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NECGKAFSYCSSLTQHRRIH", "down_seq": "REKPFECSECGKAFSYLSNL", "snv": [ { "evidence": [ { "id": "Q99676", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "27452069", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T497", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "746", "end_pos": "746" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "199", "end_pos": "199" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99676-1.662.662", "start_pos": 662, "end_pos": 662, "uniprot_canonical_ac": "Q99676-1", "length": 751, "uniprot_id": "ZN184_HUMAN", "protein_name": "Zinc finger protein 184", "refseq_ac": "NP_001305820", "refseq_name": "zinc finger protein 184 isoform 1", "gene_name": "ZNF184", "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99676", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YQCNKCEKTFSQSSHLTQHQ", "down_seq": "IHTGEKPYKCNECDKAFSRS", "snv": [ { "evidence": [ { "id": "Q99676", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "27451574", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R662", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "746", "end_pos": "746" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "199", "end_pos": "199" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99676-1.738.738", "start_pos": 738, "end_pos": 738, "uniprot_canonical_ac": "Q99676-1", "length": 751, "uniprot_id": "ZN184_HUMAN", "protein_name": "Zinc finger protein 184", "refseq_ac": "NP_001305820", "refseq_name": "zinc finger protein 184 isoform 1", "gene_name": "ZNF184", "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99676", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RIHSGEKPFGCNDCGKSFRY", "down_seq": "SALNKHQRLHPGI", "snv": [ { "evidence": [ { "id": "Q99676", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "27451347", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R738", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "746", "end_pos": "746" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "199", "end_pos": "199" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q99676-1.746.746", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99676-1.746.746", "start_pos": 746, "end_pos": 746, "uniprot_canonical_ac": "Q99676-1", "length": 751, "uniprot_id": "ZN184_HUMAN", "protein_name": "Zinc finger protein 184", "refseq_ac": "NP_001305820", "refseq_name": "zinc finger protein 184 isoform 1", "gene_name": "ZNF184", "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q99676", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FGCNDCGKSFRYRSALNKHQ", "down_seq": "LHPGI", "snv": [ { "evidence": [ { "id": "Q99676", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q99676" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "6", "chr_pos": "27451322", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R746", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "746", "end_pos": "746" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "199", "end_pos": "199" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q99676-1.738.738", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q99676-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "Q99676-1", "length": 751, "uniprot_id": "ZN184_HUMAN", "protein_name": "Zinc finger protein 184", "refseq_ac": "NP_001305820", "refseq_name": "zinc finger protein 184 isoform 1", "gene_name": "ZNF184", "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" }, { "database": "iPTMnet", "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" }, { "database": "iPTMnet", "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] } ], "crossref": [ { "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TCADWETRLENSVSAPEPDI", "down_seq": "EEELSPEVIVEKHKRDDSWS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676" } ], "site_lbl": "Ser117" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "746", "end_pos": "746" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "199", "end_pos": "199" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q99676-1.122.122", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q99676-1.122.122", "start_pos": 122, "end_pos": 122, "uniprot_canonical_ac": "Q99676-1", "length": 751, "uniprot_id": "ZN184_HUMAN", "protein_name": "Zinc finger protein 184", "refseq_ac": "NP_001305820", "refseq_name": "zinc finger protein 184 isoform 1", "gene_name": "ZNF184", "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" }, { "database": "iPTMnet", "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] } ], "crossref": [ { "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ETRLENSVSAPEPDISEEEL", "down_seq": "PEVIVEKHKRDDSWSSNLLE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676" } ], "site_lbl": "Ser122" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "746", "end_pos": "746" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "199", "end_pos": "199" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q99676-1.117.117", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q99676-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "Q99676-1", "length": 751, "uniprot_id": "ZN184_HUMAN", "protein_name": "Zinc finger protein 184", "refseq_ac": "NP_001305820", "refseq_name": "zinc finger protein 184 isoform 1", "gene_name": "ZNF184", "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" }, { "database": "iPTMnet", "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VNNEFGKSVNVSSNLVTQEP", "down_seq": "PEETSTKRSIKQNSNPVKKE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q99676", "url": "https://www.uniprot.org/uniprotkb/Q99676" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q99676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99676" } ], "site_lbl": "Ser199" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "14", "end_pos": "14" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "662", "end_pos": "662" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "746", "end_pos": "746" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "117", "end_pos": "117" }, { "start_pos": "122", "end_pos": "122" }, { "start_pos": "199", "end_pos": "199" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9C0E2-1.449.449", "start_pos": 449, "end_pos": 449, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "AVQVFNSYIQCHLAAPDGTR", "down_seq": "LTANGVASREEEEISELQED", "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLTANGVASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn449", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLT->DLT).", "chr_id": "13", "chr_pos": "20809796", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N449", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9C0E2-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9C0E2-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9C0E2-1.464.464", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9C0E2-1.599.599", "start_pos": 599, "end_pos": 599, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] } ], "crossref": [ { "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529", "database": "DOI", "categories": [ "Other" ] }, { "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888", "database": "Data Submission", "categories": [ "Other" ] }, { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NTTLQILGSPGEKASSIPGY", "down_seq": "RTDSVIRLLSAILRVSEVES", "glycosylation": [ { "glytoucan_ac": "G28905MY", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HSSEVDINTTLQILGSPGEKASSIPGYNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn599", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000888", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000888" } ] } ], "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NRT->SRT).", "chr_id": "13", "chr_pos": "20807478", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N599", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_n_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9C0E2-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9C0E2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9C0E2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Genetic manipulation of OGT enhances NK cell-mediated cytotoxicity in tumor immunity.", "journal": "Journal of advanced research", "date": "2025-09-04", "authors": "Oh Se-Chan, Jeon Bong Chan, Jang In-Hwan, Song Mi-Ran, Hwang Heeyoun, An Dasom, Yue Liu, Jung Yuri, Lee Yunhee, Jo Seona, Park Sung-Kyun, Kim Tae-Don", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9C0E2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422" } ] } ], "crossref": [ { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9C0E2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9C0E2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40914422", "url": "https://glygen.org/publication/PubMed/40914422", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q9C0E2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9C0E2" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "40914422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40914422" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9C0E2-1.1066.1066", "start_pos": 1066, "end_pos": 1066, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs866299363", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866299363", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs866299363", "url": "https://www.ensembl.org/id/rs866299363", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LFLATRHFLKLVFDMLVLQK", "down_seq": "NTEMTTAAGEAFYTLVCLHQ", "snv": [ { "evidence": [ { "id": "rs866299363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866299363" }, { "id": "rs866299363", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866299363" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HNT->NNT).", "chr_id": "13", "chr_pos": "20787027", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1066", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.112.112", "start_pos": 112, "end_pos": 112, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SLRTFLLTYVLQRPNLQKYV", "down_seq": "EQILLAVAVIVKRGSLDKSI", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "20855749", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R112", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.1145.1145", "start_pos": 1145, "end_pos": 1145, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs777208487", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777208487", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777208487", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777208487", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777208487", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777208487", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LDRKQKMAFLKSLEEFMANV", "down_seq": "GLLCVK", "snv": [ { "evidence": [ { "id": "rs777208487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777208487" }, { "id": "rs777208487", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777208487" }, { "id": "rs777208487", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777208487" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVG->NVC).", "chr_id": "13", "chr_pos": "20783745", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1145", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.150.150", "start_pos": 150, "end_pos": 150, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KSIDCKSIFHEVSQLISSGN", "down_seq": "TVQTLACSILTALLSEFSSS", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "13", "chr_pos": "20855634", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P150", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751084199", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751084199", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751084199", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751084199", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751084199", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751084199", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RQIFMLTVEVLQEFSRRENL", "down_seq": "AQMSSVFQRYLALANQVLSW", "snv": [ { "evidence": [ { "id": "rs751084199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751084199" }, { "id": "rs751084199", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751084199" }, { "id": "rs751084199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751084199" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "13", "chr_pos": "20842975", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N216", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9C0E2-1.225.225", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VLQEFSRRENLNAQMSSVFQ", "down_seq": "YLALANQVLSWNFLPPNLGR", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "13", "chr_pos": "20842948", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R225", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9C0E2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9C0E2-1.244.244", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.244.244", "start_pos": 244, "end_pos": 244, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs761989476", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761989476", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761989476", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761989476", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761989476", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761989476#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs761989476", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761989476", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "QRYLALANQVLSWNFLPPNL", "down_seq": "RHYIAMFESSQNVLLKPTES", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLG->NLC).", "chr_id": "13", "chr_pos": "20827177", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G244", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs761989476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761989476" }, { "id": "rs761989476", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761989476" }, { "id": "rs761989476", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761989476#frequency_tab" }, { "id": "rs761989476", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761989476" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "13", "chr_pos": "20827177", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G244", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9C0E2-1.225.225", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ESSQNVLLKPTESWRETLLD", "down_seq": "RVMELFFTVHRKIREDSDMA", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "20827092", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S272", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q9C0E2-1.283.283", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ESWRETLLDSRVMELFFTVH", "down_seq": "KIREDSDMAQDSLQCLAQLA", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "13", "chr_pos": "20822283", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R283", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9C0E2-1.272.272", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VLTAIPSELFSSFVNCLTHL", "down_seq": "CSFGRSAALEEVLDKDDMVY", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TCS->NCS).", "chr_id": "13", "chr_pos": "20821741", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T379", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.436.436", "start_pos": 436, "end_pos": 436, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1595079794", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1595079794", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1595079794", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1595079794#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DDKHFHKGFFTQHAVQVFNS", "down_seq": "IQCHLAAPDGTRNLTANGVA", "snv": [ { "evidence": [ { "id": "rs1595079794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1595079794" }, { "id": "rs1595079794", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1595079794#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSY->NSS).", "chr_id": "13", "chr_pos": "20809834", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y436", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q9C0E2-1.449.449", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9C0E2-1.451.451", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.451.451", "start_pos": 451, "end_pos": 451, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs9552285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9552285", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs9552285", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9552285", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs9552285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9552285", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs9552285", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9552285#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs9552285", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9552285", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QVFNSYIQCHLAAPDGTRNL", "down_seq": "ANGVASREEEEISELQEDDR", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" }, { "id": "rs9552285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9552285" }, { "id": "rs9552285", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9552285" }, { "id": "rs9552285", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9552285" }, { "id": "rs9552285", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9552285#frequency_tab" }, { "id": "rs9552285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9552285" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLA).", "chr_id": "13", "chr_pos": "20809225", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T451", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9C0E2-1.436.436", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9C0E2-1.449.449", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9C0E2-1.464.464", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9C0E2-1.471.471", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.471.471", "start_pos": 471, "end_pos": 471, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TANGVASREEEEISELQEDD", "down_seq": "DQFSDQLASVGMLGRIAAEH", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "13", "chr_pos": "20809165", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R471", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "unlinked_id_list": [ "DOID:1795" ], "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9C0E2-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9C0E2-1.464.464", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.559.559", "start_pos": 559, "end_pos": 559, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "IHWLILVTGYLLADDTQGET", "down_seq": "LIPPEIMEYSIKHSSEVDIN", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "20807598", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P559", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.625.625", "start_pos": 625, "end_pos": 625, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1405724781", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405724781", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1405724781", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1405724781", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IRLLSAILRVSEVESRAIRA", "down_seq": "LTHLLSPQMGKDIVWFLKRW", "snv": [ { "evidence": [ { "id": "rs1405724781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405724781" }, { "id": "rs1405724781", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1405724781" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "13", "chr_pos": "20800935", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D625", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.707.707", "start_pos": 707, "end_pos": 707, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ISNLSVWSSEQDLANDTVQL", "down_seq": "VTLVERRERANLVIQCENWW", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "20800184", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L707", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.839.839", "start_pos": 839, "end_pos": 839, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs959301335", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs959301335", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs959301335", "url": "https://www.ensembl.org/id/rs959301335", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TQIDNVAILFNFLMDFLTNC", "down_seq": "GLMEVYKNTPETVNLIIEVF", "snv": [ { "evidence": [ { "id": "rs959301335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs959301335" }, { "id": "rs959301335", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs959301335" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NCI->NCT).", "chr_id": "13", "chr_pos": "20796864", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I839", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q9C0E2-1.849.849", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.849.849", "start_pos": 849, "end_pos": 849, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2059364301", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2059364301", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2059364301", "url": "https://www.ensembl.org/id/rs2059364301", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NFLMDFLTNCIGLMEVYKNT", "down_seq": "ETVNLIIEVFVEVAHKQICY", "snv": [ { "evidence": [ { "id": "rs2059364301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2059364301" }, { "id": "rs2059364301", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2059364301" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "13", "chr_pos": "20796835", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P849", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9C0E2-1.839.839", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.894.894", "start_pos": 894, "end_pos": 894, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KAMNLYEACLTLLQVYSKNN", "down_seq": "GRQRIDVTAEEEQYQDLLLI", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNL->NNS).", "chr_id": "13", "chr_pos": "20796192", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L894", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9C0E2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ATAIMEAVVREWILLEKGSI", "down_seq": "SLRTFLLTYVLQRPNLQKYV", "snv": [ { "evidence": [ { "id": "Q9C0E2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9C0E2" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "20862763", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E91", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9C0E2-1.464.464", "start_pos": 464, "end_pos": 464, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PDGTRNLTANGVASREEEEI", "down_seq": "ELQEDDRDQFSDQLASVGML", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "site_lbl": "Ser464" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9C0E2-1.449.449", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9C0E2-1.451.451", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9C0E2-1.471.471", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9C0E2-1.521.521", "start_pos": 521, "end_pos": 521, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] } ], "crossref": [ { "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EERVTRLHGQLQRHQQQLLA", "down_seq": "PGSSTVDNKMLDDLYEDIHW", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser521" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9C0E2-1.524.524", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9C0E2-1.525.525", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9C0E2-1.526.526", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9C0E2-1.524.524", "start_pos": 524, "end_pos": 524, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" }, { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VTRLHGQLQRHQQQLLASPG", "down_seq": "STVDNKMLDDLYEDIHWLIL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser524" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9C0E2-1.521.521", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9C0E2-1.525.525", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9C0E2-1.526.526", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9C0E2-1.525.525", "start_pos": 525, "end_pos": 525, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TRLHGQLQRHQQQLLASPGS", "down_seq": "TVDNKMLDDLYEDIHWLILV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser525" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9C0E2-1.521.521", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9C0E2-1.524.524", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9C0E2-1.526.526", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9C0E2-1.526.526", "start_pos": 526, "end_pos": 526, "uniprot_canonical_ac": "Q9C0E2-1", "length": 1151, "uniprot_id": "XPO4_HUMAN", "protein_name": "Exportin-4", "refseq_ac": "NP_071904", "refseq_name": "exportin-4 isoform 1", "gene_name": "XPO4", "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9C0E2", "url": "https://www.uniprot.org/uniprotkb/Q9C0E2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] } ], "crossref": [ { "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RLHGQLQRHQQQLLASPGSS", "down_seq": "VDNKMLDDLYEDIHWLILVT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9C0E2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9C0E2" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Thr526" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "449", "end_pos": "449" }, { "start_pos": "599", "end_pos": "599" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1066", "end_pos": "1066" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "1145", "end_pos": "1145" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "244", "end_pos": "244" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "449", "end_pos": "449" }, { "start_pos": "451", "end_pos": "451" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "559", "end_pos": "559" }, { "start_pos": "599", "end_pos": "599" }, { "start_pos": "625", "end_pos": "625" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "839", "end_pos": "839" }, { "start_pos": "849", "end_pos": "849" }, { "start_pos": "894", "end_pos": "894" }, { "start_pos": "91", "end_pos": "91" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "464", "end_pos": "464" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "524", "end_pos": "524" }, { "start_pos": "525", "end_pos": "525" }, { "start_pos": "526", "end_pos": "526" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9C0E2-1.521.521", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9C0E2-1.524.524", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9C0E2-1.525.525", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H379-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9H379-1", "length": 93, "uniprot_id": "YI012_HUMAN", "protein_name": "Putative uncharacterized protein PRO3102", "refseq_ac": "", "refseq_name": "", "gene_name": "PRO3102", "gene_names_uniprotkb": "PRO3102", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H379", "url": "https://www.uniprot.org/uniprotkb/Q9H379" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9H379", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H379" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9H379", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H379", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9H379", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H379" } ] } ], "all_sites": [], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H4Z2-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MSSSTLAHSLAAIEALADGP", "down_seq": "STSTCLEAQGGPSSPVQLPP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr201", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.556.556", "start_pos": 556, "end_pos": 556, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1219543524", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219543524", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1219543524", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1219543524", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KDVIRHAAVHSRDRKKRPDP", "down_seq": "PKLSSFPCPVCGRVYPMQKR", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr556", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1219543524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219543524" }, { "id": "rs1219543524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1219543524" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "20", "chr_pos": "45960731", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T556", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9H4Z2-1.540.540", "categories": [ "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.997.997", "start_pos": 997, "end_pos": 997, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9H4Z2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H4Z2" }, { "database": "O-GlcNAc Atlas", "id": "Q9H4Z2", "url": "https://oglcnac.org/atlas/detail/Q9H4Z2" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] } ], "crossref": [ { "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9H4Z2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H4Z2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q9H4Z2", "url": "https://oglcnac.org/atlas/detail/Q9H4Z2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs748343875", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748343875", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748343875", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748343875", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748343875", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748343875", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1159438236", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159438236", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1159438236", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159438236", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PAKTHCVGDSQSSASSPPAT", "down_seq": "KALGLAVPPSPPSAATAASK", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser997", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q9H4Z2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H4Z2" }, { "id": "Q9H4Z2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9H4Z2" } ] } ], "snv": [ { "evidence": [ { "id": "rs748343875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748343875" }, { "id": "rs748343875", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748343875" }, { "id": "rs748343875", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748343875" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "20", "chr_pos": "45952346", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S997", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159438236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159438236" }, { "id": "rs1159438236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159438236" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->R).", "chr_id": "20", "chr_pos": "45952347", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S997", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9H4Z2-1.992.992", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9H4Z2-1.1007.1007", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H4Z2-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs375438170", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375438170", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs375438170", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375438170", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs375438170", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375438170", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs375438170", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375438170#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs375438170", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375438170", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GGPPALVHSSALPDPNMLVS", "down_seq": "CTASSSDLGSAIDKIIESTI", "snv": [ { "evidence": [ { "id": "rs375438170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375438170" }, { "id": "rs375438170", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375438170" }, { "id": "rs375438170", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375438170" }, { "id": "rs375438170", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375438170#frequency_tab" }, { "id": "rs375438170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375438170" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DCT->NCT).", "chr_id": "20", "chr_pos": "45969532", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D121", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.253.253", "start_pos": 253, "end_pos": 253, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LEAMMEVVVVQQFKCKMCQY", "down_seq": "SSTKATLLRHMRERHFRPVA", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "45967790", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R253", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9H4Z2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9H4Z2-1.257.257", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs376925321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376925321", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376925321", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376925321#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376925321", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376925321", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EAMMEVVVVQQFKCKMCQYR", "down_seq": "STKATLLRHMRERHFRPVAA", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" }, { "id": "rs376925321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376925321" }, { "id": "rs376925321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376925321#frequency_tab" }, { "id": "rs376925321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376925321" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "20", "chr_pos": "45967787", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S254", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9H4Z2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9H4Z2-1.257.257", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1199775964", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199775964", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1199775964", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1199775964", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MEVVVVQQFKCKMCQYRSST", "down_seq": "ATLLRHMRERHFRPVAAAAA", "snv": [ { "evidence": [ { "id": "rs1199775964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199775964" }, { "id": "rs1199775964", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1199775964" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "20", "chr_pos": "45967777", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K257", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9H4Z2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9H4Z2-1.254.254", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.284.284", "start_pos": 284, "end_pos": 284, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MRERHFRPVAAAAAAAGKKG", "down_seq": "LRKWSTSTKSQEEEGPEEED", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "20", "chr_pos": "45967599", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R284", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9H4Z2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9H4Z2-1.300.300", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1470185977", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470185977", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1470185977", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1470185977#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1470185977", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470185977", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FRPVAAAAAAAGKKGRLRKW", "down_seq": "TSTKSQEEEGPEEEDDDDIV", "snv": [ { "evidence": [ { "id": "rs1470185977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470185977" }, { "id": "rs1470185977", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1470185977#frequency_tab" }, { "id": "rs1470185977", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1470185977" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "20", "chr_pos": "45967583", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S289", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9H4Z2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9H4Z2-1.300.300", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.300.300", "start_pos": 300, "end_pos": 300, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GKKGRLRKWSTSTKSQEEEG", "down_seq": "EEEDDDDIVDAGAIDDLEED", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "45967551", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P300", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9H4Z2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9H4Z2-1.289.289", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.347.347", "start_pos": 347, "end_pos": 347, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "EDEPRGRQLRLQRPTPSTPR", "down_seq": "RRRPGRPRKLPRLEISDLPD", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "45965691", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P347", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q9H4Z2-1.355.355", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.355.355", "start_pos": 355, "end_pos": 355, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LRLQRPTPSTPRPRRRPGRP", "down_seq": "KLPRLEISDLPDGVEGEPLV", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "20", "chr_pos": "45965667", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R355", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9H4Z2-1.347.347", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.38.38", "start_pos": 38, "end_pos": 38, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1568832994", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568832994", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1568832994", "url": "https://www.ensembl.org/id/rs1568832994", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RPEEPSESGLGVGTSEAVSA", "down_seq": "SSDAAAAPGQAEADDSGVGQ", "snv": [ { "evidence": [ { "id": "rs1568832994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568832994" }, { "id": "rs1568832994", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1568832994" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "20", "chr_pos": "45971299", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D38", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2083900234", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083900234", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2083900234", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2083900234#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QDPEAPSSSGPGHLVAMGKV", "down_seq": "RTPVEAGVSQSDAENAAPSC", "snv": [ { "evidence": [ { "id": "rs2083900234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083900234" }, { "id": "rs2083900234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2083900234#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "20", "chr_pos": "45963873", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S407", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9H4Z2-1.416.416", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9H4Z2-1.418.418", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.431.431", "start_pos": 431, "end_pos": 431, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2083897493", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083897493", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2083897493", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2083897493#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VEAGVSQSDAENAAPSCPDE", "down_seq": "DTLPRRRGRPSRRFLGKKYR", "snv": [ { "evidence": [ { "id": "rs2083897493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083897493" }, { "id": "rs2083897493", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2083897493#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HDT->NDT).", "chr_id": "20", "chr_pos": "45963802", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H431", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9H4Z2-1.416.416", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9H4Z2-1.418.418", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.491.491", "start_pos": 491, "end_pos": 491, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GSRFLSHEDLRFHVNSHEAG", "down_seq": "PQLFKCLQCSYRSRRWSSLK", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "45963535", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D491", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.529.529", "start_pos": 529, "end_pos": 529, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2083854265", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083854265", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2083854265", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2083854265#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2083854265", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2083854265", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLKEHMFNHVGSKPYKCDEC", "down_seq": "YTSVYRKDVIRHAAVHSRDR", "snv": [ { "evidence": [ { "id": "rs2083854265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083854265" }, { "id": "rs2083854265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2083854265#frequency_tab" }, { "id": "rs2083854265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2083854265" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SYT->NYT).", "chr_id": "20", "chr_pos": "45962130", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S529", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q9H4Z2-1.540.540", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.540.540", "start_pos": 540, "end_pos": 540, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SKPYKCDECSYTSVYRKDVI", "down_seq": "HAAVHSRDRKKRPDPTPKLS", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "45962098", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R540", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9H4Z2-1.529.529", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9H4Z2-1.556.556", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.583.583", "start_pos": 583, "end_pos": 583, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PCPVCGRVYPMQKRLTQHMK", "down_seq": "HSTEKPHMCDKCGKSFKKRY", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "45960650", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T583", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.620.620", "start_pos": 620, "end_pos": 620, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200292156", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200292156", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200292156", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200292156", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200292156", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200292156", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200292156", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200292156#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200292156", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200292156", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KKRYTFKMHLLTHIQAVANR", "down_seq": "FKCEFCEFVCEDKKALLNHQ", "snv": [ { "evidence": [ { "id": "rs200292156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200292156" }, { "id": "rs200292156", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200292156" }, { "id": "rs200292156", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200292156" }, { "id": "rs200292156", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200292156#frequency_tab" }, { "id": "rs200292156", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200292156" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRR->NRT).", "chr_id": "20", "chr_pos": "45960449", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R620", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.64.64", "start_pos": 64, "end_pos": 64, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2084059743", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2084059743", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2084059743", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2084059743#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAPGQAEADDSGVGQSSDRG", "down_seq": "RSQEEVSESSSSADPLPNSY", "snv": [ { "evidence": [ { "id": "rs2084059743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2084059743" }, { "id": "rs2084059743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2084059743#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "20", "chr_pos": "45971220", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S64", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9H4Z2-1.84.84", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.657.657", "start_pos": 657, "end_pos": 657, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LNHQLSHVSDKPFKCSFCPY", "down_seq": "TFREDFLLSHVAVKHTGAKP", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "45960258", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R657", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q9H4Z2-1.671.671", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.671.671", "start_pos": 671, "end_pos": 671, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CSFCPYRTFREDFLLSHVAV", "down_seq": "HTGAKPFACEYCHFSTRHKK", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KHT->NHT).", "chr_id": "20", "chr_pos": "45960215", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K671", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9H4Z2-1.657.657", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.694.694", "start_pos": 694, "end_pos": 694, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs771030476", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771030476", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771030476", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771030476", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771030476", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771030476#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771030476", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771030476", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GAKPFACEYCHFSTRHKKNL", "down_seq": "LHVRCRHASSFEEWGRRHPE", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" }, { "id": "rs771030476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771030476" }, { "id": "rs771030476", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771030476" }, { "id": "rs771030476", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771030476#frequency_tab" }, { "id": "rs771030476", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771030476" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLR->NLC).", "chr_id": "20", "chr_pos": "45959374", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R694", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.804.804", "start_pos": 804, "end_pos": 804, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "AEESTAMATQTALDLLLNMS", "down_seq": "QRELGGTALQVAVVKSEDVE", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "20", "chr_pos": "45957617", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A804", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.84.84", "start_pos": 84, "end_pos": 84, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758117397", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758117397", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758117397", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758117397", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758117397", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758117397", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SRSQEEVSESSSSADPLPNS", "down_seq": "LPDSSSVSHGPVAGVTGGPP", "snv": [ { "evidence": [ { "id": "rs758117397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758117397" }, { "id": "rs758117397", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758117397" }, { "id": "rs758117397", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758117397" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSY->NSC).", "chr_id": "20", "chr_pos": "45969642", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y84", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9H4Z2-1.64.64", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9H4Z2-1.89.89", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H4Z2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EVSESSSSADPLPNSYLPDS", "down_seq": "SVSHGPVAGVTGGPPALVHS", "snv": [ { "evidence": [ { "id": "Q9H4Z2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H4Z2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "45969627", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S89", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9H4Z2-1.84.84", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H4Z2-1.1007.1007", "start_pos": 1007, "end_pos": 1007, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "iPTMnet", "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q9H4Z2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QSSASSPPATSKALGLAVPP", "down_seq": "PPSAATAASKKFSCKICAEA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1007" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9H4Z2-1.992.992", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9H4Z2-1.997.997", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H4Z2-1.1153.1153", "start_pos": 1153, "end_pos": 1153, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "iPTMnet", "id": "Q9H4Z2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGTPTARAPTQTPTQTIILN", "down_seq": "DDETLATLHTALQSSHGVLG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2" } ], "site_lbl": "Ser1153" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H4Z2-1.416.416", "start_pos": 416, "end_pos": 416, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "iPTMnet", "id": "Q9H4Z2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "iPTMnet", "id": "Q9H4Z2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GPGHLVAMGKVSRTPVEAGV", "down_seq": "QSDAENAAPSCPDEHDTLPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser416" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9H4Z2-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H4Z2-1.418.418", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9H4Z2-1.431.431", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H4Z2-1.418.418", "start_pos": 418, "end_pos": 418, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "iPTMnet", "id": "Q9H4Z2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GHLVAMGKVSRTPVEAGVSQ", "down_seq": "DAENAAPSCPDEHDTLPRRR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser418" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9H4Z2-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9H4Z2-1.416.416", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9H4Z2-1.431.431", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H4Z2-1.976.976", "start_pos": 976, "end_pos": 976, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q9H4Z2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q9H4Z2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GAKWPLLQCGGLPRDGPEPP", "down_seq": "PAKTHCVGDSQSSASSPPAT", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "iPTMnet", "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser976" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q9H4Z2-1.992.992", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H4Z2-1.992.992", "start_pos": 992, "end_pos": 992, "uniprot_canonical_ac": "Q9H4Z2-1", "length": 1342, "uniprot_id": "ZN335_HUMAN", "protein_name": "Zinc finger protein 335", "refseq_ac": "NP_071378", "refseq_name": "zinc finger protein 335", "gene_name": "ZNF335", "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "iPTMnet", "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PEPPSPAKTHCVGDSQSSAS", "down_seq": "PPATSKALGLAVPPSPPSAA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H4Z2", "url": "https://www.uniprot.org/uniprotkb/Q9H4Z2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H4Z2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4Z2" } ], "site_lbl": "Ser992" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "snv", "site_list": [ { "start_pos": "121", "end_pos": "121" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "431", "end_pos": "431" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "529", "end_pos": "529" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "620", "end_pos": "620" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "657", "end_pos": "657" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "694", "end_pos": "694" }, { "start_pos": "804", "end_pos": "804" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "89", "end_pos": "89" }, { "start_pos": "997", "end_pos": "997" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "976", "end_pos": "976" }, { "start_pos": "992", "end_pos": "992" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9H4Z2-1.976.976", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9H4Z2-1.997.997", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9H4Z2-1.1007.1007", "categories": [ "phosphorylation_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQH7-1.64.64", "start_pos": 64, "end_pos": 64, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1412268677", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412268677", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1412268677", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412268677", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NQH7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2058048974", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058048974", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2058048974", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2058048974", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RYLGQPSPFTHPHLLRPGEV", "down_seq": "PGLSQVEYALRRHKLMSLIQ", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr64", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1412268677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412268677" }, { "id": "rs1412268677", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412268677" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "22", "chr_pos": "40881778", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T64", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NQH7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7" }, { "id": "rs2058048974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058048974" }, { "id": "rs2058048974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2058048974" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "22", "chr_pos": "40881779", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T64", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NQH7-1.44.44", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "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 } ], "sort_fields": [ "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": 1 } ], "sort_fields": [ "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": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQH7-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy.", "journal": "Nature communications", "date": "2025-02-02", "authors": "Zhang Na, Meng Yang, Mao Song, Ni Huiling, Huang Canhua, Shen Licong, Fu Kun, Lv Lu, Yu Chunhong, Meekrathok Piyanat, Kuang Chunmei, Chen Fang, Zhang Yu, Yuan Kai", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NQH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQH7" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NQH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQH7", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "Q9NQH7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NQH7" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "upstream", "id": "Q9NQH7-1.18.18", "categories": [ "mutagenesis_flag", "snv_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQH7-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Aminopeptidase P3, a new member of the TNF-TNFR2 signaling complex, induces phosphorylation of JNK1 and JNK2.", "journal": "Journal of cell science", "date": "2015", "authors": "Inoue M, Kamada H, Abe Y, Higashisaka K, Nagano K, Mukai Y, Yoshioka Y, Tsutsumi Y, Tsunoda S", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "reference": [ { "type": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "crossref": [ { "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs761278219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761278219", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761278219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761278219", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761278219", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761278219#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs761278219", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761278219", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MPWLLSAPKLVPAVANV", "down_seq": "GLSGCMLCSQRRYSLQPVPE", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Prevents cleavage of N-terminal transit peptide; when associated with A-29-30-A; A-39-40-A and A-44.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" }, { "database": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "snv": [ { "evidence": [ { "id": "rs761278219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761278219" }, { "id": "rs761278219", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761278219" }, { "id": "rs761278219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs761278219#frequency_tab" }, { "id": "rs761278219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761278219" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVR->NVC).", "chr_id": "22", "chr_pos": "40857233", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R18", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "mutagenesis_flag", "snv_flag" ], "glycosylation": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9NQH7-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9NQH7-1.29.30", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQH7-1.29.30", "start_pos": 29, "end_pos": 30, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Aminopeptidase P3, a new member of the TNF-TNFR2 signaling complex, induces phosphorylation of JNK1 and JNK2.", "journal": "Journal of cell science", "date": "2015", "authors": "Inoue M, Kamada H, Abe Y, Higashisaka K, Nagano K, Mukai Y, Yoshioka Y, Tsutsumi Y, Tsunoda S", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "reference": [ { "type": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "crossref": [ { "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RR", "start_aa": "R", "up_seq": "KLVPAVANVRGLSGCMLCSQ", "down_seq": "YSLQPVPERRIPNRYLGQPS", "mutagenesis": [ { "sequence_org": "RR", "sequence_mut": "AA", "comment": "Prevents cleavage of N-terminal transit peptide; when associated with A-18; A-39-40-A and A-44.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" }, { "database": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9NQH7-1.18.18", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NQH7-1.39.40", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9NQH7-1.44.44", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQH7-1.314.314", "start_pos": 314, "end_pos": 314, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Aminopeptidase P3, a new member of the TNF-TNFR2 signaling complex, induces phosphorylation of JNK1 and JNK2.", "journal": "Journal of cell science", "date": "2015", "authors": "Inoue M, Kamada H, Abe Y, Higashisaka K, Nagano K, Mukai Y, Yoshioka Y, Tsutsumi Y, Tsunoda S", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "reference": [ { "type": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "crossref": [ { "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "GADILAYPPVVAGGNRSNTL", "down_seq": "YVKNNQLIKDGEMVLLDGGC", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Impairs catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" }, { "database": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQH7-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Aminopeptidase P3, a new member of the TNF-TNFR2 signaling complex, induces phosphorylation of JNK1 and JNK2.", "journal": "Journal of cell science", "date": "2015", "authors": "Inoue M, Kamada H, Abe Y, Higashisaka K, Nagano K, Mukai Y, Yoshioka Y, Tsutsumi Y, Tsunoda S", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "reference": [ { "type": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "crossref": [ { "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IKDGEMVLLDGGCESSCYVS", "down_seq": "ITRTWPVNGRFTAPQAELYE", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Impairs catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" }, { "database": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q9NQH7-1.352.352", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQH7-1.39.40", "start_pos": 39, "end_pos": 40, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Aminopeptidase P3, a new member of the TNF-TNFR2 signaling complex, induces phosphorylation of JNK1 and JNK2.", "journal": "Journal of cell science", "date": "2015", "authors": "Inoue M, Kamada H, Abe Y, Higashisaka K, Nagano K, Mukai Y, Yoshioka Y, Tsutsumi Y, Tsunoda S", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "reference": [ { "type": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "crossref": [ { "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RR", "start_aa": "R", "up_seq": "GLSGCMLCSQRRYSLQPVPE", "down_seq": "IPNRYLGQPSPFTHPHLLRP", "mutagenesis": [ { "sequence_org": "RR", "sequence_mut": "AA", "comment": "Prevents cleavage of N-terminal transit peptide; when associated with A-18; A-29-30-A and A-44.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" }, { "database": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9NQH7-1.29.30", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9NQH7-1.44.44", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQH7-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Aminopeptidase P3, a new member of the TNF-TNFR2 signaling complex, induces phosphorylation of JNK1 and JNK2.", "journal": "Journal of cell science", "date": "2015", "authors": "Inoue M, Kamada H, Abe Y, Higashisaka K, Nagano K, Mukai Y, Yoshioka Y, Tsutsumi Y, Tsunoda S", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "reference": [ { "type": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "crossref": [ { "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MLCSQRRYSLQPVPERRIPN", "down_seq": "YLGQPSPFTHPHLLRPGEVT", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Prevents cleavage of N-terminal transit peptide; when associated with A-18; A-29-30-A and A-39-40-A.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" }, { "database": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9NQH7-1.29.30", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9NQH7-1.39.40", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NQH7-1.64.64", "categories": [ "glycosylation_flag", "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQH7-1.475.475", "start_pos": 475, "end_pos": 475, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Aminopeptidase P3, a new member of the TNF-TNFR2 signaling complex, induces phosphorylation of JNK1 and JNK2.", "journal": "Journal of cell science", "date": "2015", "authors": "Inoue M, Kamada H, Abe Y, Higashisaka K, Nagano K, Mukai Y, Yoshioka Y, Tsutsumi Y, Tsunoda S", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "reference": [ { "type": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "crossref": [ { "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YIPEDDKDAPEKFRGLGVRI", "down_seq": "DDVVVTQDSPLILSADCPKE", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Impairs catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" }, { "database": "PubMed", "id": "25609706", "url": "https://glygen.org/publication/PubMed/25609706" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NQH7-1.103.103", "start_pos": 103, "end_pos": 103, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQH7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs73885709", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73885709", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs73885709", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs73885709", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs73885709", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73885709", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs73885709", "url": "https://www.ncbi.nlm.nih.gov/snp/rs73885709#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs73885709", "url": "http://gnomad.broadinstitute.org/awesome?query=rs73885709", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "IQKEAQGQSGTDQTVVVLSN", "down_seq": "TYYMSNDIPYTFHQDNNFLY", "snv": [ { "evidence": [ { "id": "Q9NQH7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7" }, { "id": "rs73885709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73885709" }, { "id": "rs73885709", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs73885709" }, { "id": "rs73885709", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73885709" }, { "id": "rs73885709", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs73885709#frequency_tab" }, { "id": "rs73885709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs73885709" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPT->NST).", "chr_id": "22", "chr_pos": "40881895", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P103", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NQH7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7" }, { "id": "rs73885709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73885709" }, { "id": "rs73885709", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs73885709" }, { "id": "rs73885709", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73885709" }, { "id": "rs73885709", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs73885709#frequency_tab" }, { "id": "rs73885709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs73885709" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPT->NTT).", "chr_id": "22", "chr_pos": "40881895", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P103", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9NQH7-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9NQH7-1.94.94", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQH7-1.150.150", "start_pos": 150, "end_pos": 150, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQH7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "PDSILVLQSLPGKQLPSHKA", "down_seq": "LFVPRRDPSRELWDGPRSGT", "snv": [ { "evidence": [ { "id": "Q9NQH7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "I", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "22", "chr_pos": "40882036", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I150", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQH7-1.246.246", "start_pos": 246, "end_pos": 246, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs777969667", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777969667", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777969667", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777969667", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777969667", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777969667", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KAKSKNKVRGVQQLIQRLRL", "down_seq": "KSPAEIERMQIAGKLTSQAF", "snv": [ { "evidence": [ { "id": "rs777969667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777969667" }, { "id": "rs777969667", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777969667" }, { "id": "rs777969667", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777969667" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IKS->NKS).", "chr_id": "22", "chr_pos": "40886460", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I246", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQH7-1.352.352", "start_pos": 352, "end_pos": 352, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQH7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GGCESSCYVSDITRTWPVNG", "down_seq": "FTAPQAELYEAVLEIQRDCL", "snv": [ { "evidence": [ { "id": "Q9NQH7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NGR->NGS).", "chr_id": "22", "chr_pos": "40922333", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R352", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9NQH7-1.342.342", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQH7-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NQH7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QAELYEAVLEIQRDCLALCF", "down_seq": "GTSLENIYSMMLTLIGQKLK", "snv": [ { "evidence": [ { "id": "Q9NQH7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NQH7" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "22", "chr_pos": "40922406", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P377", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q9NQH7-1.385.385", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQH7-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2058220257", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058220257", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2058220257", "url": "https://www.ensembl.org/id/rs2058220257", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LEIQRDCLALCFPGTSLENI", "down_seq": "SMMLTLIGQKLKDLGIMKNI", "snv": [ { "evidence": [ { "id": "rs2058220257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2058220257" }, { "id": "rs2058220257", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2058220257" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIY->NIC).", "chr_id": "22", "chr_pos": "40922431", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y385", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9NQH7-1.377.377", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQH7-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1017989325", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1017989325", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1017989325", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1017989325#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1017989325", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1017989325", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EYALRRHKLMSLIQKEAQGQ", "down_seq": "GTDQTVVVLSNPTYYMSNDI", "snv": [ { "evidence": [ { "id": "rs1017989325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1017989325" }, { "id": "rs1017989325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1017989325#frequency_tab" }, { "id": "rs1017989325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1017989325" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGT->NGT).", "chr_id": "22", "chr_pos": "40881860", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S91", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0111117", "recommended_name": { "id": "DOID:0111117", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111117", "name": "nephronophthisis-like nephropathy 1", "description": "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2." }, "synonyms": [ { "id": "DOID:0111117", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111117", "name": "NPHPL1", "description": "" }, { "id": "MONDO:0013163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013163", "name": "nephronophthisis-like nephropathy 1", "description": "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene." }, { "id": "MONDO:0013163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013163", "name": "NPHP-XPNPEP3", "description": "" }, { "id": "MONDO:0013163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013163", "name": "NPHPL1", "description": "" }, { "id": "MONDO:0013163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013163", "name": "XPNPEP3 nephronophthisis (disease)", "description": "" }, { "id": "MONDO:0013163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013163", "name": "nephronophthisis (disease) caused by mutation in XPNPEP3", "description": "" }, { "id": "MONDO:0013163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013163", "name": "nephronophthisis-like nephropathy 1", "description": "" }, { "id": "MONDO:0013163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013163", "name": "nephronophthisis-like nephropathy type 1", "description": "" }, { "id": "MIM:613159", "resource": "MIM", "url": "https://www.omim.org/entry/613159", "name": "Nephronophthisis-like nephropathy 1", "description": "Nephronophthisis-like nephropathy 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "613159", "database": "MIM", "url": "https://www.omim.org/entry/613159" }, { "id": "0111117", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111117" } ] } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9NQH7-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9NQH7-1.103.103", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NQH7-1.94.94", "start_pos": 94, "end_pos": 94, "uniprot_canonical_ac": "Q9NQH7-1", "length": 507, "uniprot_id": "XPP3_HUMAN", "protein_name": "Xaa-Pro aminopeptidase 3", "refseq_ac": "NP_071381", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "gene_name": "XPNPEP3", "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQH7", "url": "https://www.uniprot.org/uniprotkb/Q9NQH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1355697171", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355697171", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1355697171", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355697171#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LRRHKLMSLIQKEAQGQSGT", "down_seq": "QTVVVLSNPTYYMSNDIPYT", "snv": [ { "evidence": [ { "id": "rs1355697171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355697171" }, { "id": "rs1355697171", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355697171#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "22", "chr_pos": "40881868", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D94", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "64", "end_pos": "64" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "18", "end_pos": "18" }, { "start_pos": "29", "end_pos": "30" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "39", "end_pos": "40" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "475", "end_pos": "475" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "246", "end_pos": "246" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "64", "end_pos": "64" }, { "start_pos": "91", "end_pos": "91" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9NQH7-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9NQH7-1.103.103", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UF83-1.118.118", "start_pos": 118, "end_pos": 118, "uniprot_canonical_ac": "Q9UF83-1", "length": 564, "uniprot_id": "YM012_HUMAN", "protein_name": "Uncharacterized protein DKFZp434B061", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UF83", "url": "https://www.uniprot.org/uniprotkb/Q9UF83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MGSPHRASPMRTPPRASPTG", "down_seq": "PSTASPTGTPSSASPTGTPP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr118", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "557", "end_pos": "557" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9UF83-1.127.127", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UF83-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "Q9UF83-1", "length": 564, "uniprot_id": "YM012_HUMAN", "protein_name": "Uncharacterized protein DKFZp434B061", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UF83", "url": "https://www.uniprot.org/uniprotkb/Q9UF83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MRTPPRASPTGTPSTASPTG", "down_seq": "PSSASPTGTPPRASPTGTPP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr127", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "557", "end_pos": "557" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UF83-1.118.118", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UF83-1.259.259", "start_pos": 259, "end_pos": 259, "uniprot_canonical_ac": "Q9UF83-1", "length": 564, "uniprot_id": "YM012_HUMAN", "protein_name": "Uncharacterized protein DKFZp434B061", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UF83", "url": "https://www.uniprot.org/uniprotkb/Q9UF83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PTRRPPRASPTGSPPRASPM", "down_seq": "PPRASPRTPPRASPTTTPSR", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr259", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "557", "end_pos": "557" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UF83-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "Q9UF83-1", "length": 564, "uniprot_id": "YM012_HUMAN", "protein_name": "Uncharacterized protein DKFZp434B061", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UF83", "url": "https://www.uniprot.org/uniprotkb/Q9UF83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MKMESTVSITRTPPRASPTG", "down_seq": "PSRASPTGTPSRASLTGSPS", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr321", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "557", "end_pos": "557" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9UF83-1.330.330", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UF83-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "Q9UF83-1", "length": 564, "uniprot_id": "YM012_HUMAN", "protein_name": "Uncharacterized protein DKFZp434B061", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UF83", "url": "https://www.uniprot.org/uniprotkb/Q9UF83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TRTPPRASPTGTPSRASPTG", "down_seq": "PSRASLTGSPSRASLTGTPS", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr330", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "557", "end_pos": "557" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9UF83-1.321.321", "categories": [ "glycosylation_flag" ] } ], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UF83-1.380.380", "start_pos": 380, "end_pos": 380, "uniprot_canonical_ac": "Q9UF83-1", "length": 564, "uniprot_id": "YM012_HUMAN", "protein_name": "Uncharacterized protein DKFZp434B061", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UF83", "url": "https://www.uniprot.org/uniprotkb/Q9UF83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UF83", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UF83" }, { "database": "O-GlcNAc Atlas", "id": "Q9UF83", "url": "https://oglcnac.org/atlas/detail/Q9UF83" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UF83", "url": "https://oglcnac.org/atlas/detail/Q9UF83" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UF83", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UF83", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UF83", "url": "https://oglcnac.org/atlas/detail/Q9UF83", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RASLIGTPSRASLTGTPPRA", "down_seq": "LTGTSSTASLTRTPSRASLT", "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_aa": "Ser", "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser380", "evidence": [ { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "Q9UF83", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UF83" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q9UF83", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9UF83" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "557", "end_pos": "557" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9UF83-1.557.557", "start_pos": 557, "end_pos": 557, "uniprot_canonical_ac": "Q9UF83-1", "length": 564, "uniprot_id": "YM012_HUMAN", "protein_name": "Uncharacterized protein DKFZp434B061", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UF83", "url": "https://www.uniprot.org/uniprotkb/Q9UF83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MPSTASLTRKSNVNQQCPAS", "down_seq": "PSSEVIS", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr557", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "118", "end_pos": "118" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "259", "end_pos": "259" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "557", "end_pos": "557" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.42.42", "start_pos": 42, "end_pos": 42, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs2085049190", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2085049190", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2085049190", "url": "https://www.ensembl.org/id/rs2085049190", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2085049213", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2085049213", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2085049213", "url": "https://www.ensembl.org/id/rs2085049213", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PPPSAQPQREPPPAPPAAVP", "down_seq": "PPAPSAPPPRARESAELPLP", "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr42", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs2085049190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2085049190" }, { "id": "rs2085049190", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2085049190" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "X", "chr_pos": "10015704", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2085049213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2085049213" }, { "id": "rs2085049213", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2085049213" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "X", "chr_pos": "10015705", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T42", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9ULE0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9ULE0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9ULE0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9ULE0" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9ULE0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9ULE0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9ULE0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9ULE0" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9ULE0-1.1051.1051", "start_pos": 1051, "end_pos": 1051, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9ULE0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SQTFSPGARSQYVCRLYRSD", "down_seq": "DSSTLPRKSPFVRNTLERRT", "snv": [ { "evidence": [ { "id": "Q9ULE0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SDS->NDS).", "chr_id": "23", "chr_pos": "10136649", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1051", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9ULE0-1.1052.1052", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.1052.1052", "start_pos": 1052, "end_pos": 1052, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9ULE0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QTFSPGARSQYVCRLYRSDS", "down_seq": "SSTLPRKSPFVRNTLERRTL", "snv": [ { "evidence": [ { "id": "Q9ULE0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "23", "chr_pos": "10136651", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1052", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9ULE0-1.1051.1051", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.190.190", "start_pos": 190, "end_pos": 190, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2147112556", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147112556", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2147112556", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2147112556", "database": "1000Genomes", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KQQRFELAQEEYQQLHKMCE", "down_seq": "DSRSYASSFSGYSTNTKYDP", "snv": [ { "evidence": [ { "id": "rs2147112556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147112556" }, { "id": "rs2147112556", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2147112556" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "X", "chr_pos": "10067466", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D190", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.303.303", "start_pos": 303, "end_pos": 303, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9ULE0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TGEKERRDLMHSLAKLTDSF", "down_seq": "NSCSVTDSLVDFPHHVGVPG", "snv": [ { "evidence": [ { "id": "Q9ULE0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KNS->NNS).", "chr_id": "23", "chr_pos": "10094161", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K303", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.423.423", "start_pos": 423, "end_pos": 423, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9ULE0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ALLQELQLIIAQRRSAGDVA", "down_seq": "LEEERERLEEELRRARATSA", "snv": [ { "evidence": [ { "id": "Q9ULE0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "23", "chr_pos": "10117326", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R423", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.479.479", "start_pos": 479, "end_pos": 479, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9ULE0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LLMQLEEATRLTSYLQSQLK", "down_seq": "LCASTLTVSSGSSRGSLASS", "snv": [ { "evidence": [ { "id": "Q9ULE0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "23", "chr_pos": "10117495", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S479", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.724.724", "start_pos": 724, "end_pos": 724, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9ULE0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "PLTKRNEDAEEPAYGDTASN", "down_seq": "DPQIHVGLLRDSGSECLLVH", "snv": [ { "evidence": [ { "id": "Q9ULE0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9ULE0" } ], "glycoeffect": [], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "23", "chr_pos": "10124311", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G724", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q9ULE0-1.738.738", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.738.738", "start_pos": 738, "end_pos": 738, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1922127668", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1922127668", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1922127668", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1922127668", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GDTASNGDPQIHVGLLRDSG", "down_seq": "ECLLVHVLQLKNPAGLAVKE", "snv": [ { "evidence": [ { "id": "rs1922127668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1922127668" }, { "id": "rs1922127668", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1922127668" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SEC->NEC).", "chr_id": "X", "chr_pos": "10125038", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S738", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9ULE0-1.724.724", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.838.838", "start_pos": 838, "end_pos": 838, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1245922935", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245922935", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1245922935", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1245922935#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1245922935", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1245922935", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TPQLQEELLGIAQINLADYD", "down_seq": "LSEMQLRWHSVQVFTSSEPS", "snv": [ { "evidence": [ { "id": "rs1245922935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245922935" }, { "id": "rs1245922935", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1245922935#frequency_tab" }, { "id": "rs1245922935", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1245922935" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "X", "chr_pos": "10128022", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S838", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1312906634", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312906634", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1312906634", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312906634#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AGWEEARDYDGRVFYIDHNT", "down_seq": "QTSWIDPRDRITKPLTFADC", "snv": [ { "evidence": [ { "id": "rs1312906634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1312906634" }, { "id": "rs1312906634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312906634#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTR->NTC).", "chr_id": "X", "chr_pos": "10015827", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R83", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9ULE0-1.995.995", "start_pos": 995, "end_pos": 995, "uniprot_canonical_ac": "Q9ULE0-1", "length": 1216, "uniprot_id": "WWC3_HUMAN", "protein_name": "Protein WWC3", "refseq_ac": "", "refseq_name": "", "gene_name": "WWC3", "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULE0", "url": "https://www.uniprot.org/uniprotkb/Q9ULE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772107113", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772107113", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772107113", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772107113", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772107113", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772107113#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772107113", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772107113", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QAGPYSPEKFQPSPLKVDKE", "down_seq": "NTEDLFLEEAASLVKERPSR", "snv": [ { "evidence": [ { "id": "rs772107113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772107113" }, { "id": "rs772107113", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772107113" }, { "id": "rs772107113", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772107113#frequency_tab" }, { "id": "rs772107113", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772107113" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TNT->NNT).", "chr_id": "X", "chr_pos": "10134445", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T995", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "42", "end_pos": "42" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1051", "end_pos": "1051" }, { "start_pos": "1052", "end_pos": "1052" }, { "start_pos": "190", "end_pos": "190" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "423", "end_pos": "423" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "724", "end_pos": "724" }, { "start_pos": "738", "end_pos": "738" }, { "start_pos": "838", "end_pos": "838" }, { "start_pos": "83", "end_pos": "83" }, { "start_pos": "995", "end_pos": "995" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NCN2-1.316.316", "start_pos": 316, "end_pos": 316, "uniprot_canonical_ac": "Q8NCN2-1", "length": 500, "uniprot_id": "ZBT34_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 34", "refseq_ac": "NP_001092740", "refseq_name": "zinc finger and BTB domain-containing protein 34 isoform 1", "gene_name": "ZBTB34", "gene_names_uniprotkb": "ZBTB34; KIAA1993", "gene_names_refseq": "ZBTB34; ZNF918", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NCN2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NCN2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SEAFGSLSNSSPSRSMLSCF", "down_seq": "GGRARQKRALSVHLHSDLQG", "snv": [ { "evidence": [ { "id": "Q8NCN2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NCN2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "9", "chr_pos": "126880357", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R316", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "316", "end_pos": "316" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "164", "end_pos": "164" }, { "start_pos": "463", "end_pos": "463" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q8NCN2-1.319.319", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NCN2-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "Q8NCN2-1", "length": 500, "uniprot_id": "ZBT34_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 34", "refseq_ac": "NP_001092740", "refseq_name": "zinc finger and BTB domain-containing protein 34 isoform 1", "gene_name": "ZBTB34", "gene_names_uniprotkb": "ZBTB34; KIAA1993", "gene_names_refseq": "ZBTB34; ZNF918", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NCN2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NCN2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FGSLSNSSPSRSMLSCFRGG", "down_seq": "ARQKRALSVHLHSDLQGLVQ", "snv": [ { "evidence": [ { "id": "Q8NCN2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NCN2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "126880366", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R319", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "316", "end_pos": "316" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "164", "end_pos": "164" }, { "start_pos": "463", "end_pos": "463" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8NCN2-1.316.316", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NCN2-1.392.392", "start_pos": 392, "end_pos": 392, "uniprot_canonical_ac": "Q8NCN2-1", "length": 500, "uniprot_id": "ZBT34_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 34", "refseq_ac": "NP_001092740", "refseq_name": "zinc finger and BTB domain-containing protein 34 isoform 1", "gene_name": "ZBTB34", "gene_names_uniprotkb": "ZBTB34; KIAA1993", "gene_names_refseq": "ZBTB34; ZNF918", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NCN2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NCN2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LICIYCGKSFNQKGSLDRHM", "down_seq": "LHMGITPFVCKFCGKKYTRK", "snv": [ { "evidence": [ { "id": "Q8NCN2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NCN2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "126880585", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R392", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "316", "end_pos": "316" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "164", "end_pos": "164" }, { "start_pos": "463", "end_pos": "463" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NCN2-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "Q8NCN2-1", "length": 500, "uniprot_id": "ZBT34_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 34", "refseq_ac": "NP_001092740", "refseq_name": "zinc finger and BTB domain-containing protein 34 isoform 1", "gene_name": "ZBTB34", "gene_names_uniprotkb": "ZBTB34; KIAA1993", "gene_names_refseq": "ZBTB34; ZNF918", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NCN2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NCN2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IQGQPFRAHKAVLAASSPYF", "down_seq": "DHSALSTMSGLSISVIKNPN", "snv": [ { "evidence": [ { "id": "Q8NCN2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NCN2" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "126879583", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R58", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "316", "end_pos": "316" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "164", "end_pos": "164" }, { "start_pos": "463", "end_pos": "463" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8NCN2-1.164.164", "start_pos": 164, "end_pos": 164, "uniprot_canonical_ac": "Q8NCN2-1", "length": 500, "uniprot_id": "ZBT34_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 34", "refseq_ac": "NP_001092740", "refseq_name": "zinc finger and BTB domain-containing protein 34 isoform 1", "gene_name": "ZBTB34", "gene_names_uniprotkb": "ZBTB34; KIAA1993", "gene_names_refseq": "ZBTB34; ZNF918", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" }, { "database": "iPTMnet", "id": "Q8NCN2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NCN2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NCN2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NCN2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NPESRNGVKDSSFFANPVEI", "down_seq": "PPYCSQGRQPTASSDLRMET", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8NCN2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NCN2" } ], "site_lbl": "Ser164" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "316", "end_pos": "316" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "164", "end_pos": "164" }, { "start_pos": "463", "end_pos": "463" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8NCN2-1.463.463", "start_pos": 463, "end_pos": 463, "uniprot_canonical_ac": "Q8NCN2-1", "length": 500, "uniprot_id": "ZBT34_HUMAN", "protein_name": "Zinc finger and BTB domain-containing protein 34", "refseq_ac": "NP_001092740", "refseq_name": "zinc finger and BTB domain-containing protein 34 isoform 1", "gene_name": "ZBTB34", "gene_names_uniprotkb": "ZBTB34; KIAA1993", "gene_names_refseq": "ZBTB34; ZNF918", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" }, { "database": "iPTMnet", "id": "Q8NCN2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NCN2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NCN2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NCN2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LNQHLRKNHPGVAEVRSRIE", "down_seq": "PERTDVYVEQKLENDASASE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8NCN2", "url": "https://www.uniprot.org/uniprotkb/Q8NCN2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8NCN2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8NCN2" } ], "site_lbl": "Ser463" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "316", "end_pos": "316" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "392", "end_pos": "392" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "164", "end_pos": "164" }, { "start_pos": "463", "end_pos": "463" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "A6NDX4-1.41.41", "start_pos": 41, "end_pos": 41, "uniprot_canonical_ac": "A6NDX4-1", "length": 124, "uniprot_id": "YO011_HUMAN", "protein_name": "Putative transmembrane protein ENSP00000320207", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NDX4", "url": "https://www.uniprot.org/uniprotkb/A6NDX4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NDX4", "url": "https://www.uniprot.org/uniprotkb/A6NDX4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TFIVNFYLPPESIDFEFMAH", "down_seq": "WSKGRSPSSTLGLSWFKAGF", "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "evidence": [ { "id": "A6NDX4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A6NDX4#ptm_processing" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "41", "end_pos": "41" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_n_linked_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_aa", "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_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NP61-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "A6NP61-1", "length": 321, "uniprot_id": "ZAR1L_HUMAN", "protein_name": "Protein ZAR1-like", "refseq_ac": "NP_001130043", "refseq_name": "protein ZAR1-like", "gene_name": "ZAR1L", "gene_names_uniprotkb": "ZAR1L", "gene_names_refseq": "Z3CXXC7; ZAR1L; ZAR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NP61", "url": "https://www.uniprot.org/uniprotkb/A6NP61" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "A6NP61", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6NP61" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "crossref": [ { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "A6NP61", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6NP61", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "A6NP61", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6NP61" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "187", "end_pos": "187" }, { "start_pos": "267", "end_pos": "267" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": true, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 0 }, { "field": "fuzzy_sites", "count": 1 }, { "field": "fuzzy_o_linked_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycan_sites", "count": 1 }, { "field": "fuzzy_o_linked_glycans", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "A6NP61-1.187.187", "start_pos": 187, "end_pos": 187, "uniprot_canonical_ac": "A6NP61-1", "length": 321, "uniprot_id": "ZAR1L_HUMAN", "protein_name": "Protein ZAR1-like", "refseq_ac": "NP_001130043", "refseq_name": "protein ZAR1-like", "gene_name": "ZAR1L", "gene_names_uniprotkb": "ZAR1L", "gene_names_refseq": "Z3CXXC7; ZAR1L; ZAR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NP61", "url": "https://www.uniprot.org/uniprotkb/A6NP61" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NP61", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NP61", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QPPSRRSGADRQEEPGQLEE", "down_seq": "GEKDAPCPQETKSKQVPGDA", "snv": [ { "evidence": [ { "id": "A6NP61", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NP61" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "32311366", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S187", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "187", "end_pos": "187" }, { "start_pos": "267", "end_pos": "267" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NP61-1.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "A6NP61-1", "length": 321, "uniprot_id": "ZAR1L_HUMAN", "protein_name": "Protein ZAR1-like", "refseq_ac": "NP_001130043", "refseq_name": "protein ZAR1-like", "gene_name": "ZAR1L", "gene_names_uniprotkb": "ZAR1L", "gene_names_refseq": "Z3CXXC7; ZAR1L; ZAR2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NP61", "url": "https://www.uniprot.org/uniprotkb/A6NP61" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NP61", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NP61", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TNKVYFKQLCCKCQKSFNPY", "down_seq": "VEAIQCQTCSKSHCSCPQKK", "snv": [ { "evidence": [ { "id": "A6NP61", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NP61" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "32308709", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R267", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "187", "end_pos": "187" }, { "start_pos": "267", "end_pos": "267" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] } ]